IDH1 V71I
Gene Variant Detail

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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

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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_001282387.1 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_005896.4 chr2:g.208248572C>T c.211G>A p.V71I RefSeq GRCh38/hg38
NM_005896.3 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_001282387 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_001282386.1 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References