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.
ENST00000358883 You are here now! ENST00000374430 You are here now! ENST00000374431 You are here now! ENST00000441240 ENST00000538760 ENST00000541779 NP_001338326 You are here now! NP_001338327 You are here now! NP_001338328 You are here now! NP_001338329 You are here now! NP_001338330 You are here now! NP_001338331 You are here now! NP_001338332 You are here now! NP_001338333 You are here now! NP_001338334 You are here now! NP_001338335 You are here now! NP_001338336 You are here now! NP_001338337 You are here now! NP_001338338 You are here now! NP_001338339 You are here now! NP_001338340 You are here now! NP_001338341 You are here now! NP_001338342 You are here now! NP_001338343 You are here now! NP_001338344 You are here now! NP_001338345 You are here now!


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
PF00001 7tm_1 7 transmembrane receptor (rhodopsin family) 66-311 CL0192 GPCR_A Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Anosmia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.586 0.552
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.586 0.552
Fetal Death Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.586 0.552
Growth Disorders Pathological Conditions, Signs and Symptoms ; 0.586 0.552
Leukemia, Myelocytic, Acute Neoplasms ; 0.586 0.552
Acute Myeloid Leukemia, M1 Neoplasms ; 0.586 0.552
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.586 0.552
Schizophrenia Mental Disorders ; 0.586 0.552
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.586 0.552
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.586 0.552
Olfaction Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.586 0.552
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.586 0.552
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.586 0.552
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.586 0.552
Sense of smell altered Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.586 0.552
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.586 0.552
Cacosmia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.586 0.552
NO RESULT FOUND
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