Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 results in 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), 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 V565F |
Transcript | NM_001144913.1 |
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_001144913.1 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
XM_024447890.2 | chr10:g.121488075_121488077delGTAinsTTT | c.1693_1695delGTAinsTTT | p.V565F | RefSeq | GRCh38/hg38 |
XM_024447890.1 | chr10:g.121488075_121488077delGTAinsTTT | c.1693_1695delGTAinsTTT | p.V565F | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121496705C>A | c.1693G>T | p.V565F | RefSeq | GRCh38/hg38 |
NM_022970 | 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 |
NM_001144913.1 | 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 |
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... |