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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 |
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_005896.3 | 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_005896.4 | 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_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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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