Gene Variant Detail

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Gene IDH1
Variant G123R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 G123R lies within the active site of the Idh1 protein (PMID: 20972461). The functional effect of G123R is conflicting, as it results in decreased catalytic activity in an in vitro assay (PMID: 20171178), but also demonstrates catalytic activity similar to wild-type Idh1 (PMID: 21996744), and therefore, its effect on Idh1 protein function is unknown.
Associated Drug Resistance

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Transcript NM_005896
gDNA chr2:g.208248416C>T
cDNA c.367G>A
Protein p.G123R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_005896 chr2:g.208248416C>T c.367G>A p.G123R 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 G123R unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References