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Gene | FGFR2 |
Variant | V564L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 V564L (also referred to as V565L from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564L results in increased Fgfr2 kinase activity in cell culture and has been shown to be associated with secondary resistance to FGFR inhibitors (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 V564L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496705C>G |
cDNA | c.1690G>C |
Protein | p.V564L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024447887.1 | chr10:g.121488077C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488077C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121496705C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496705C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121487376C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121487376C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121487376C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121496705C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 M537I FGFR2 V564L FGFR2 amp | cholangiocarcinoma | predicted - resistant | Infigratinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with cholangiocarcinoma with amplification of FGFR2 experienced disease progression after 3.9 months of treatment with Truseltiq (infigratinib) and was found to have acquired additional FGFR2 mutations, M537I and V564L (PMID: 34250419). | 34250419 |
FGFR2 G542A FGFR2 V564L FGFR2 amp | stomach cancer | sensitive | KIN-3248 | Preclinical - Pdx | Actionable | In a preclinical study, KIN-3248 treatment inhibited tumor growth in a gastric cancer patient derived xenograft (PDX) model harboring FGFR2 V564L and G542A with FGFR2 amplification (PMID: 38267212). | 38267212 |