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Gene FGFR2
Variant L618V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 L618V (corresponds to L617V in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L618V has been shown to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880) and demonstrates increased Fgfr2 kinase activity compared to wild-type in an in vitro assay (PMID: 28166054), 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 L618V

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Transcript NM_001144913.1
gDNA chr10:g.121496546A>C
cDNA c.1852T>G
Protein p.L618V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121496546A>C c.1852T>G p.L618V RefSeq GRCh38/hg38
XM_017015925 chr10:g.121485444G>C c.1852C>G p.L618V RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496546A>C c.1852T>G p.L618V RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121496546A>C c.1852T>G p.L618V RefSeq GRCh38/hg38
XM_017015925.2 chr10:g.121485444G>C c.1852C>G p.L618V RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121496546A>C c.1852T>G p.L618V RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121485444G>C c.1852C>G p.L618V RefSeq GRCh38/hg38
NM_022970 chr10:g.121496546A>C c.1852T>G p.L618V RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496546A>C c.1852T>G p.L618V 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 L618V gain of function - predicted
FGFR2 fusion FGFR2 L618V