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: gnomAD(53)
gnomAD Variants By Annotation
2%4%68%4%4%19%10010090908080707060605050404030302020101000
Frameshift Variant
Inframe Deletion
Missense Variant
Start Lost
Stop Gained
Synonymous Variant
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∙ 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 ENST00000415282 ENST00000415913 ENST00000417583 ENST00000446179 ENST00000451391 NP_001269315 NP_001269316 NP_005887


healinggnomAD
2%4%68%4%4%19%10010090908080707060605050404030302020101000
Frameshift Variant
Inframe Deletion
Missense Variant
Start Lost
Stop Gained
Synonymous Variant
Download SVG
Download PNG
Download CSV

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 Mus musculus

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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