Gene Variant Detail

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Gene IDH1
Variant G97D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 G97D lies within the substrate binding region of the Idh1 protein (UniProt.org). G97D results confers a gain of function to Idh1, as indicated by production of the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 21996744, PMID: 27824159, PMID: 22442146).
Associated Drug Resistance

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Transcript NM_005896
gDNA chr2:g.208248493C>T
cDNA c.290G>A
Protein p.G97D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208248493C>T c.290G>A p.G97D RefSeq GRCh38/hg38
NM_005896 chr2:g.208248493C>T c.290G>A p.G97D RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248493C>T c.290G>A p.G97D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
IDH1 G97D gain of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References