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Gene | IDH1 |
Variant | G289D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 G289D does not lie within any known functional domains of the Idh1 protein (UniProt.org). G289D has been associated with acquired IDH1 inhibitor resistance (PMID: 32380538), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 G289D |
Transcript | NM_005896.4 |
gDNA | chr2:g.208239988C>T |
cDNA | c.866G>A |
Protein | p.G289D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896.4 | chr2:g.208239988C>T | c.866G>A | p.G289D | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239988C>T | c.866G>A | p.G289D | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239988C>T | c.866G>A | p.G289D | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208239988C>T | c.866G>A | p.G289D | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239988C>T | c.866G>A | p.G289D | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239988C>T | c.866G>A | p.G289D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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