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IDH1 R132G - Gene Variant Detail

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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

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Transcript NM_005896.4
gDNA chr2:g.208248389G>C
cDNA c.394C>G
Protein p.R132G
Source Database RefSeq
Genome Build GRCh38/hg38

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