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Gene | FGFR2 |
Variant | V565L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 V565L (corresponds to V564L in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V565L has been shown to be associated with secondary resistance to FGFR inhibitors and demonstrates increased Fgfr2 kinase activity in cell culture (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 V565L |
Transcript | NM_001144913.1 |
gDNA | chr10:g.121496705C>G |
cDNA | c.1693G>C |
Protein | p.V565L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913.1 | chr10:g.121496705C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121496705C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
XM_024447890.2 | chr10:g.121488077C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496705C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
XM_006717711 | chr10:g.121488077C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121496705C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121496705C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
XM_024447890.1 | chr10:g.121488077C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121496705C>G | c.1693G>C | p.V565L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 V565L | Advanced Solid Tumor | predicted - sensitive | TYRA-200 | Preclinical - Biochemical | Actionable | In a preclinical study, TYRA-200 inhibited FGFR2 V565L in an in vitro assay (Eur J Cancer 2022 Vol 174, Supp 1:S16). | detail... |