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IDH1 L409V - Gene Variant Detail

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Gene IDH1
Variant L409V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 L409V does not lie within any known functional domains of the Idh1 protein (UniProt.org). L409V does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 L409V

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Transcript NM_005896.4
gDNA chr2:g.208237099G>C
cDNA c.1225C>G
Protein p.L409V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208237099G>C c.1225C>G p.L409V RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208237099G>C c.1225C>G p.L409V RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208237099G>C c.1225C>G p.L409V RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208237099G>C c.1225C>G p.L409V RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208237099G>C c.1225C>G p.L409V RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208237099G>C c.1225C>G p.L409V RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References