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|Synonyms||HEL-216 | HEL-S-26 | IDCD | IDH | IDP | IDPC | PICD|
|Gene Description||IDH1, isocitrate dehydrogenase (NADP(+)) 1, cytosolic, is an enzyme that catalyzes the conversion of isocitrate to alpha-ketoglutarate (alpha-KG), and is involved in the tricarboxylic acid cycle (PMID: 23999441, PMID: 28711227). Mutations in IDH1 are associated with aberrant conversion of alpha-KG to 2-HG, which is an oncogenic metabolite, and are recurrent in acute myeloid leukemia and glioma (PMID: 23999441, PMID: 28711227).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|G97X||missense||unknown||IDH1 G97X indicates any Idh1 missense mutation that results in replacement of the glycine (G) at amino acid 97 by a different amino acid.|
|R100X||missense||unknown||IDH1 R100X indicates any Idh1 missense mutation that results in replacement of the arginine (R) at amino acid 100 by a different amino acid.|
|R132X||missense||unknown||IDH1 R132X indicates any Idh1 missense mutation that results in the replacement of the arginine (R) at amino acid 132 by a different amino acid. R132 variants are hotspot mutations in Idh1, which often results in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 19935646, PMID: 28330869, PMID: 21326614).|
|Y139X||missense||unknown||IDH1 Y139X indicates any Idh1 missense mutation that results in replacement of the tyrosine (Y) at amino acid 139 by a different amino acid.|
|act mut||unknown||gain of function||IDH1 act mut indicates that this variant results in a gain of function in the Idh1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||IDH1 mutant indicates an unspecified mutation in the IDH1 gene.|