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Gene | IDH1 |
Variant | E190K |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH1 E190K does not lie within any known functional domains of the Idh1 protein (UniProt.org). E190K does not confer transforming activity to the Idh1 protein as demonstrated by the lack of tumor formation in animal models (PMID: 27147599), and therefore, is predicted to have no effect on Idh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 E190K |
Transcript | NM_005896.3 |
gDNA | chr2:g.208243557C>T |
cDNA | c.568G>A |
Protein | p.E190K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387.1 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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