IDH1 Y183C
Gene Variant Detail

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Gene IDH1
Variant Y183C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 Y183C does not lie within any known functional domains of the Idh1 protein (UniProt.org). Y183C does not result in production of the oncometabolite 2HG in cell culture (PMID: 23063752), and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 Y183C

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Transcript NM_005896.4
gDNA chr2:g.208243577T>C
cDNA c.548A>G
Protein p.Y183C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.3 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_001282386 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_005896 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_001282387 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208243577T>C c.548A>G p.Y183C RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208243577T>C c.548A>G p.Y183C 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