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IDH1 R132X - Gene Variant Detail

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Gene IDH1
Variant R132X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 R132X

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Transcript NM_005896.4
gDNA chr2:g.208248387_208248389
cDNA c.394_396
Protein p.R132
Source Database RefSeq
Genome Build GRCh38/hg38

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