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Gene | FGFR2 |
Variant | V565I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 V565I (corresponds to V564I in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V565I results in increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V565I |
Transcript | NM_022970.4 |
gDNA | chr10:g.121496705C>T |
cDNA | c.1693G>A |
Protein | p.V565I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
XM_006717711 | chr10:g.121488077C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
XM_024447890.2 | chr10:g.121488077C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
XM_024447890.1 | chr10:g.121488077C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 V565I | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |