Gene Variant Detail

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Gene FGFR2
Variant V564L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 V564L (also referred to as V565L from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564L results in increased Fgfr2 kinase activity in cell culture and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 V564L

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Transcript NM_000141.5
gDNA chr10:g.121496705C>G
cDNA c.1690G>C
Protein p.V564L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144916 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
XM_024447887.1 chr10:g.121488077C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
XM_024447887.2 chr10:g.121488077C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121487376C>G c.1690G>C p.V564L 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 V564L gain of function - predicted FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 M537I FGFR2 V564L FGFR2 amp
FGFR2 G542A FGFR2 V564L FGFR2 amp
FGFR2 C382R FGFR2 N549D FGFR2 N549H FGFR2 N549K FGFR2 V564L