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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 promote 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_005896.4 |
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_005896 | 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 |
NM_001282386.1 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_001282387.1 | 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_005896.4 | chr2:g.208243557C>T | c.568G>A | p.E190K | RefSeq | GRCh38/hg38 |
NM_001282387.1 | 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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