IDH1 (GeneID: 3417) | Homo sapiens
Description: isocitrate dehydrogenase (NADP(+)) 1, cytosolic [Source:HGNC Symbol;Acc:HGNC:5382]
Synonyms: IDPC, IDCD, HEL-216, IDP, ICD, IDH, HEL-S-26
Other ID(s): HGNC:5382, ENSG00000138413
Protein Accession Numbers: ENST00000417583, ENST00000415282, NP_005887, ENST00000451391, ENST00000415913.1, ENST00000345146.2, NP_001269316, ENST00000446179, ENST00000415913, ENST00000345146, NP_001269315
Statistics: ClinVar(73) gnomAD(1041) COSMIC(13226) PTM(52)
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.
ENST00000345146 You are here now! ENST00000415282 ENST00000415913 You are here now! ENST00000417583 ENST00000446179 You are here now! ENST00000451391 NP_001269315 You are here now! NP_001269316 You are here now! NP_005887 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
PF00180 Iso_dh Isocitrate/isopropylmalate dehydrogenase 9-401 CL0270 Iso_DH Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Biliary Tract Neoplasm Neoplasms ; Digestive System Diseases ; 0.463 0.69
Brain Neoplasms Neoplasms ; Nervous System Diseases ; 0.463 0.69
Cytopenia N/A 0.463 0.69
Dyschondroplasias Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Enchondromatosis Musculoskeletal Diseases ; 0.463 0.69
Glioma Neoplasms ; 0.463 0.69
Hemangioma Neoplasms ; 0.463 0.69
Childhood Acute Lymphoblastic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.463 0.69
Leukemia, Lymphocytic, Acute, L2 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.463 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.463 0.69
Acute Promyelocytic Leukemia Neoplasms ; 0.463 0.69
Maffucci Syndrome Musculoskeletal Diseases ; 0.463 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.463 0.69
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
oligodendroglioma Neoplasms ; 0.463 0.69
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.463 0.69
Malignant neoplasm of brain Neoplasms ; Nervous System Diseases ; 0.463 0.69
Congenital anemia N/A 0.463 0.69
Histiocytoid hemangioma Neoplasms ; 0.463 0.69
Hemangioma, Intramuscular Neoplasms ; 0.463 0.69
Cholangiocarcinoma Neoplasms ; 0.463 0.69
gliosarcoma Neoplasms ; 0.463 0.69
mixed gliomas Neoplasms ; 0.463 0.69
Adult Oligodendroglioma Neoplasms ; 0.463 0.69
Childhood Oligodendroglioma Neoplasms ; 0.463 0.69
Mixed Oligodendroglioma-Astrocytoma Neoplasms ; 0.463 0.69
Peroxisomal Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.463 0.69
Anaplastic astrocytoma Neoplasms ; 0.463 0.69
Giant Cell Glioblastoma Neoplasms ; 0.463 0.69
Anaplastic Oligodendroglioma Neoplasms ; 0.463 0.69
Oligodendroblastoma Neoplasms ; 0.463 0.69
Intrahepatic Cholangiocarcinoma Neoplasms ; 0.463 0.69
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.463 0.69
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.463 0.69
Malignant Glioma Neoplasms ; 0.463 0.69
Chorioangioma Neoplasms ; 0.463 0.69
Mixed Oligodendroglioma-Ependymoma Neoplasms ; 0.463 0.69
Well Differentiated Oligodendroglioma Neoplasms ; 0.463 0.69
Chondroma Neoplasms ; 0.463 0.69
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.463 0.69
Glioblastoma Multiforme Neoplasms ; 0.463 0.69
Enchondroma Neoplasms ; 0.463 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.463 0.69
Angioma Neoplasms ; 0.463 0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.463 0.69
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.463 0.69
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA N/A 0.463 0.69
Extrahepatic Cholangiocarcinoma Neoplasms ; 0.463 0.69
NO RESULT FOUND
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