∙ 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.
ENST00000332680 ENST00000396024 ENST00000421017 ENST00000451270 ENST00000557904 ENST00000557906 ENST00000557986 ENST00000558132 ENST00000558169 ENST00000558503 ENST00000558558 ENST00000558985 ENST00000558986 ENST00000558998 ENST00000559113 ENST00000559176 ENST00000559350 ENST00000559370 ENST00000559467 ENST00000559725 ENST00000559780 ENST00000559818 ENST00000559956 ENST00000560014


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Osteoporosis, Age-Related Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.485 0.793
Squamous cell carcinoma Neoplasms ; 0.485 0.793
Hepatitis, Toxic Digestive System Diseases ; Chemically-Induced Disorders ; 0.485 0.793
Leukemia, Myelocytic, Acute Neoplasms ; 0.485 0.793
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.485 0.793
Liver neoplasms Neoplasms ; Digestive System Diseases ; 0.485 0.793
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.485 0.793
Animal Mammary Neoplasms Neoplasms ; Animal Diseases ; 0.485 0.793
Mouth Neoplasms Neoplasms ; Stomatognathic Diseases ; 0.485 0.793
Acute Myeloid Leukemia, M1 Neoplasms ; 0.485 0.793
Neoplasm Invasiveness Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.485 0.793
Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.485 0.793
Osteoporosis, Senile Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.485 0.793
Weight Gain Pathological Conditions, Signs and Symptoms ; 0.485 0.793
Malignant neoplasm of mouth Neoplasms ; Stomatognathic Diseases ; 0.485 0.793
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.485 0.793
Malignant neoplasm of liver Neoplasms ; Digestive System Diseases ; 0.485 0.793
Malignant mesothelioma Neoplasms ; Respiratory Tract Diseases ; 0.485 0.793
Post-Traumatic Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.485 0.793
Drug-Induced Liver Disease Digestive System Diseases ; Chemically-Induced Disorders ; 0.485 0.793
Mammary Carcinoma, Animal Neoplasms ; Animal Diseases ; 0.485 0.793
Hepatitis, Drug-Induced Digestive System Diseases ; Chemically-Induced Disorders ; 0.485 0.793
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.485 0.793
Drug-Induced Acute Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.485 0.793
Chemical and Drug Induced Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.485 0.793
Chemically-Induced Liver Toxicity Digestive System Diseases ; Chemically-Induced Disorders ; 0.485 0.793
NO RESULT FOUND
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