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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_022970.4
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
NM_022970.4 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
NM_001144913.1 chr10:g.121496701T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
XM_024447887.1 chr10:g.121488070T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496701T>G c.1697A>C p.E566A RefSeq GRCh38/hg38
XM_024447887.2 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_022970 chr10:g.121496701T>G c.1697A>C p.E566A 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 Protein Effect Treatment Approaches
FGFR2 E566A gain of function FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 fusion FGFR2 E566A