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Gene | IDH1 |
Variant | V71I |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | IDH1 V71I does not lie within any known functional domains of the Idh1 protein (UniProt.org). V71I has no effect on Idh1 activity, as indicated by enzymatic activity similar to wild-type Idh1 in in vitro assays, and does not result in increased 2HG production (PMID: 21996744, PMID: 22442146). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 V71I |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248572C>T |
cDNA | c.211G>A |
Protein | p.V71I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896.3 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248572C>T | c.211G>A | p.V71I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH1 V71I | no effect |