Gene Variant Detail

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Gene FGFR2
Variant E566A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 E566A (corresponds to E565A in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E566A results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937, PMID: 28166054) and is also associated with resistance to FGFR inhibitors (PMID: 31109923).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 E566A

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Transcript NM_022970
gDNA chr10:g.121496701T>G
cDNA c.1697A>C
Protein p.E566A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024447887.1 chr10:g.121488070T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496701T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496701T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
NM_022970 chr10:g.121496701T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121496701T>G c.1697A>C p.E566A 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
FGFR2 E566A Advanced Solid Tumor predicted - sensitive TYRA-200 Preclinical - Biochemical Actionable In a preclinical study, TYRA-200 inhibited FGFR2 E566A in an in vitro assay (Eur J Cancer 2022 Vol 174, Supp 1:S16). detail...