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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_001144913.1 | 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 |
NM_022970.4 | chr10:g.121496705C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
NM_022970.3 | 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 |
NM_001144913 | 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 |
XM_006717711 | chr10:g.121488077C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
XM_024447890.2 | chr10:g.121488077C>T | c.1693G>A | p.V565I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 V565I | Advanced Solid Tumor | resistant | Dovitinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 V565I were resistant to treatment with Dovitinib (TKI258) (PMID: 23908597). | 23908597 |
FGFR2 V565I | Advanced Solid Tumor | resistant | Ponatinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 V565I were resistant to treatment with Iclusig (ponatinib) (PMID: 23908597). | 23908597 |
FGFR2 V565I | Advanced Solid Tumor | resistant | PD173074 | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 V565I were resistant to treatment with PD173074 (PMID: 23908597). | 23908597 |
FGFR2 V565I | Advanced Solid Tumor | predicted - sensitive | TYRA-200 | Preclinical - Cell culture | Actionable | In a preclinical study, TYRA-200 demonstrated activity in cells expressing FGFR2 V565I in culture (Eur J Cancer 2022 Vol 174, Supp 1:S16). | detail... |