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Gene | IDH1 |
Variant | V178I |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | IDH1 V178I does not lie within any known functional domains of the Idh1 protein (UniProt.org). IDH1 V178I retains wild-type Idh1 enzymatic activity, and does not increase 2HG levels in cell culture (PMID: 21996744) and therefore, has no effect on Idh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 V178I |
Transcript | NM_005896.4 |
gDNA | chr2:g.208243593C>T |
cDNA | c.532G>A |
Protein | p.V178I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387.1 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208243593C>T | c.532G>A | p.V178I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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