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Gene | IDH1 |
Variant | R132G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | IDH1 R132G lies within the active site of the Idh1 protein (PMID: 19228619). R132G confers a gain of function to Idh1, as indicated by production of 2-hydroxyglutarate (2HG) in patient tissue and in vitro assays (PMID: 28330869, PMID: 24529257, PMID: 19935646). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 act mut IDH1 R132G IDH1 mutant IDH1 R132X IDH1 R132G |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248389G>C |
cDNA | c.394C>G |
Protein | p.R132G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |