Gene Variant Detail

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Gene IDH1
Variant E190K
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 E190K does not lie within any known functional domains of the Idh1 protein (UniProt.org). E190K does not confer transforming activity to the Idh1 protein as demonstrated by the lack of tumor formation in animal models (PMID: 27147599) and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance

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Transcript NM_005896
gDNA chr2:g.208243557C>T
cDNA c.568G>A
Protein p.E190K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208243557C>T c.568G>A p.E190K RefSeq GRCh38/hg38
NM_001282387 chr2:g.208243557C>T c.568G>A p.E190K RefSeq GRCh38/hg38
NM_005896 chr2:g.208243557C>T c.568G>A p.E190K 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
IDH1 E190K no effect - predicted