ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000230480 ENST00000324450 ENST00000372055 ENST00000372064 ENST00000372067 ENST00000372077 ENST00000413642 ENST00000417285 ENST00000425836 ENST00000457104 ENST00000482630 ENST00000518689 ENST00000518824 ENST00000519767 ENST00000520265 ENST00000520948 ENST00000523125 ENST00000523873 ENST00000523950 NP_001020537 NP_001020538 NP_001020539 NP_001020540 NP_001020541 You are here now! NP_001028928


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00341 PDGF PDGF/VEGF domain 52-130 CL0079 Cystine-knot Homo sapiens
PF14554 VEGF_C VEGF heparin-binding domain 180-232 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.298 0.897
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.298 0.897
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Arthritis, Adjuvant-Induced Musculoskeletal Diseases ; 0.298 0.897
Rheumatoid Arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.298 0.897
Asthma Respiratory Tract Diseases ; Immune System Diseases ; 0.298 0.897
Atherosclerosis Cardiovascular Diseases ; 0.298 0.897
Bipolar Disorder Mental Disorders ; 0.298 0.897
Brain Neoplasms Neoplasms ; Nervous System Diseases ; 0.298 0.897
Malignant Neoplasms Neoplasms ; 0.298 0.897
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.298 0.897
Non-Small Cell Lung Carcinoma Neoplasms ; Respiratory Tract Diseases ; 0.298 0.897
Squamous cell carcinoma Neoplasms ; 0.298 0.897
Uterine Cervical Neoplasm Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Bronchitis, Chronic Respiratory Tract Diseases ; 0.298 0.897
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.298 0.897
Coronary Arteriosclerosis Cardiovascular Diseases ; 0.298 0.897
Cruveilhier-Baumgarten Syndrome Digestive System Diseases ; 0.298 0.897
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Mental Depression Behavior and Behavior Mechanisms ; 0.298 0.897
Depressive disorder Mental Disorders ; 0.298 0.897
Contact Dermatitis Skin and Connective Tissue Diseases ; 0.298 0.897
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.298 0.897
Diabetic Nephropathy Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.298 0.897
Diabetic Retinopathy Eye Diseases ; Cardiovascular Diseases ; Endocrine System Diseases ; 0.298 0.897
Dyschondroplasias Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Endometrial Neoplasms Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Epilepsy, Temporal Lobe Nervous System Diseases ; 0.298 0.897
Uncinate Epilepsy Nervous System Diseases ; 0.298 0.897
Glioblastoma Neoplasms ; 0.298 0.897
Nodular glomerulosclerosis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.298 0.897
Head and Neck Neoplasms Neoplasms ; 0.298 0.897
Head Neoplasms Neoplasms ; 0.298 0.897
Congenital Heart Defects Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Heart Diseases Cardiovascular Diseases ; 0.298 0.897
Heart failure Cardiovascular Diseases ; 0.298 0.897
Congestive heart failure Cardiovascular Diseases ; 0.298 0.897
Hemangiosarcoma Neoplasms ; 0.298 0.897
Hypertension, Portal Digestive System Diseases ; 0.298 0.897
Inflammation Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.298 0.897
Left-Sided Heart Failure Cardiovascular Diseases ; 0.298 0.897
Leukemia, Monocytic, Chronic Neoplasms ; 0.298 0.897
Myeloid Leukemia Neoplasms ; 0.298 0.897
Liver Cirrhosis Digestive System Diseases ; 0.298 0.897
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.298 0.897
Lung diseases Respiratory Tract Diseases ; 0.298 0.897
Macular Edema, Cystoid Eye Diseases ; 0.298 0.897
Melnick-Needles Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.298 0.897
Multiple Epiphyseal Dysplasia Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Myocardial Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Neck Neoplasms Neoplasms ; 0.298 0.897
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Neoplasms Neoplasms ; 0.298 0.897
Neoplasms, Experimental Neoplasms ; 0.298 0.897
Pathologic Neovascularization Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Osteochondrodysplasias Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Osteosarcoma Neoplasms ; 0.298 0.897
Pustulosis of Palms and Soles Skin and Connective Tissue Diseases ; 0.298 0.897
Precancerous Conditions Neoplasms ; 0.298 0.897
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.298 0.897
Proteinuria Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Psoriasis Skin and Connective Tissue Diseases ; 0.298 0.897
Retinal Diseases Eye Diseases ; 0.298 0.897
Retinal Vein Occlusion Eye Diseases ; Cardiovascular Diseases ; 0.298 0.897
Rhabdomyosarcoma Neoplasms ; 0.298 0.897
Schizophrenia Mental Disorders ; 0.298 0.897
Schwartz-Jampel Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Spinal Cord Injuries Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Spondyloepiphyseal Dysplasia Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Gastric ulcer Digestive System Diseases ; 0.298 0.897
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.298 0.897
Urologic Neoplasms Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Corneal Neovascularization Eye Diseases ; 0.298 0.897
Liver Failure Digestive System Diseases ; 0.298 0.897
Injuries, Acute Brain Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Benign Neoplasm Neoplasms ; 0.298 0.897
Myocardial Ischemia Cardiovascular Diseases ; 0.298 0.897
Malignant neoplasm of brain Neoplasms ; Nervous System Diseases ; 0.298 0.897
Contact hypersensitivity Skin and Connective Tissue Diseases ; 0.298 0.897
Cerebral Hypoxia-Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.298 0.897
Adenocarcinoma, Basal Cell Neoplasms ; 0.298 0.897
Adenocarcinoma, Oxyphilic Neoplasms ; 0.298 0.897
Carcinoma, Cribriform Neoplasms ; 0.298 0.897
Carcinoma, Granular Cell Neoplasms ; 0.298 0.897
Adenocarcinoma, Tubular Neoplasms ; 0.298 0.897
gliosarcoma Neoplasms ; 0.298 0.897
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.298 0.897
Heart Failure, Right-Sided Cardiovascular Diseases ; 0.298 0.897
Fibrosis, Liver Digestive System Diseases ; 0.298 0.897
Erectile dysfunction Male Urogenital Diseases ; Mental Disorders ; 0.298 0.897
Age related macular degeneration Eye Diseases ; 0.298 0.897
Brain Injuries Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Petit mal status Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Macular retinal edema Eye Diseases ; 0.298 0.897
Irvine-Gass Syndrome Eye Diseases ; 0.298 0.897
Brain Lacerations Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Malignant Head and Neck Neoplasm Neoplasms ; 0.298 0.897
Condition, Preneoplastic Neoplasms ; 0.298 0.897
Grand Mal Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Giant Cell Glioblastoma Neoplasms ; 0.298 0.897
Complications of Diabetes Mellitus Endocrine System Diseases ; 0.298 0.897
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.298 0.897
Epilepsy, Benign Psychomotor, Childhood Nervous System Diseases ; 0.298 0.897
Epilepsy, Lateral Temporal Nervous System Diseases ; 0.298 0.897
Complex Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Van Buchem disease Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
Spinal Cord Contusion Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Spinal Cord Laceration Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Spinal Cord transection injury Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Brain Injuries, Focal Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Endometrial Carcinoma Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Benign neoplasm of brain, unspecified Neoplasms ; Nervous System Diseases ; 0.298 0.897
Mood Disorders Mental Disorders ; 0.298 0.897
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Choroidal Neovascularization Eye Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
prenatal alcohol exposure N/A 0.298 0.897
Cancer of Neck Neoplasms ; 0.298 0.897
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.298 0.897
Brain Tumor, Primary Neoplasms ; Nervous System Diseases ; 0.298 0.897
Recurrent Brain Neoplasm Neoplasms ; Nervous System Diseases ; 0.298 0.897
Primary malignant neoplasm of brain Neoplasms ; Nervous System Diseases ; 0.298 0.897
Cancer of Head Neoplasms ; 0.298 0.897
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.298 0.897
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.298 0.897
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.298 0.897
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.298 0.897
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.298 0.897
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.298 0.897
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.298 0.897
Post-Traumatic Myelopathy Nervous System Diseases ; Wounds and Injuries ; 0.298 0.897
Status Epilepticus, Subclinical Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Non-Convulsive Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Simple Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Cancer of Urinary Tract Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Hypoxic-Ischemic Encephalopathy Nervous System Diseases ; Cardiovascular Diseases ; 0.298 0.897
Anoxic-Ischemic Encephalopathy Nervous System Diseases ; Cardiovascular Diseases ; 0.298 0.897
Anoxia-Ischemia, Brain Nervous System Diseases ; Cardiovascular Diseases ; 0.298 0.897
Anoxia-Ischemia, Cerebral Nervous System Diseases ; Cardiovascular Diseases ; 0.298 0.897
Hypoxia-Ischemia, Brain Nervous System Diseases ; Cardiovascular Diseases ; 0.298 0.897
Carcinoma, Pancreatic Ductal Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ; 0.298 0.897
Upper Aerodigestive Tract Neoplasms Neoplasms ; 0.298 0.897
Arthritis, Collagen-Induced Musculoskeletal Diseases ; 0.298 0.897
Arthritis, Experimental Musculoskeletal Diseases ; 0.298 0.897
Major Depressive Disorder Mental Disorders ; 0.298 0.897
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.298 0.897
Neoplasms, Intracranial Neoplasms ; Nervous System Diseases ; 0.298 0.897
Thrombosis of retinal vein Eye Diseases ; Cardiovascular Diseases ; 0.298 0.897
Atherogenesis Cardiovascular Diseases ; 0.298 0.897
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Glioblastoma Multiforme Neoplasms ; 0.298 0.897
Coronary Artery Disease Cardiovascular Diseases ; 0.298 0.897
Myocardial Failure Cardiovascular Diseases ; 0.298 0.897
Heart Decompensation Cardiovascular Diseases ; 0.298 0.897
Depressive Disorder, Treatment-Resistant Mental Disorders ; 0.298 0.897
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding) N/A 0.298 0.897
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO N/A 0.298 0.897
NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO (finding) N/A 0.298 0.897
END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO (finding) N/A 0.298 0.897
PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO (finding) N/A 0.298 0.897
NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO (finding) N/A 0.298 0.897
NEUROPATHY, DIABETIC, SUSCEPTIBILITY TO N/A 0.298 0.897
Thrombotic Microangiopathies Hemic and Lymphatic Diseases ; 0.298 0.897
Clear-cell metastatic renal cell carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
Cerebral Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.298 0.897
Spondyloepiphyseal Dysplasia Tarda, X-Linked Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.298 0.897
MICROVASCULAR COMPLICATIONS OF DIABETES, PROTECTION AGAINST N/A 0.298 0.897
cervical cancer Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.298 0.897
NO RESULT FOUND
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