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Gene | FGFR2 |
Variant | V565F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 V565F (corresponds to V564F in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V565F is predicted to confer a gain of function as demonstrated by increased Fgfr2 kinase activity in cell culture (PMID: 25169980), and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 28034880, PMID: 31109923). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V565F |
Transcript | NM_001144913 |
gDNA | chr10:g.121496705C>A |
cDNA | c.1693G>T |
Protein | p.V565F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
XM_006717711 | chr10:g.121488075_121488077delTACinsAAA | c.1693_1695delGTAinsTTT | p.V565F | RefSeq | GRCh38/hg38 |
XM_024447890.1 | chr10:g.121488075_121488077delGTAinsTTT | c.1693_1695delGTAinsTTT | p.V565F | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 V565F | Advanced Solid Tumor | predicted - sensitive | TYRA-200 | Preclinical | Actionable | In a preclinical study, TYRA-200 inhibited FGFR2 V565F in an in vitro assay, demonstrated activity in cells expressing FGFR2 V565F in culture, and induced 64% tumor growth regression in an allograft model (Eur J Cancer 2022 Vol 174, Supp 1:S16). | detail... |