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Gene | FGFR2 |
Variant | V564M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 V564M lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564M has been demonstrated to confer resistance to Fgfr inhibitors in culture (PMID: 25349422), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 V564M |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496703_121496705delGTTinsATG |
cDNA | c.1690_1692delGTTinsATG |
Protein | p.V564M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121496703_121496705delGTTinsATG | c.1690_1692delGTTinsATG | p.V564M | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488075_121488077delGTAinsATG | c.1690_1692delGTAinsATG | p.V564M | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121487374_121487376delGTAinsATG | c.1690_1692delGTAinsATG | p.V564M | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488075_121488077delGTAinsATG | c.1690_1692delGTAinsATG | p.V564M | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121496703_121496705delGTTinsATG | c.1690_1692delGTTinsATG | p.V564M | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121487374_121487376delGTAinsATG | c.1690_1692delGTAinsATG | p.V564M | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121496703_121496705delAACinsCAT | c.1690_1692delGTTinsATG | p.V564M | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121487374_121487376delTACinsCAT | c.1690_1692delGTAinsATG | p.V564M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 V564M | Advanced Solid Tumor | resistant | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing FGFR2 V564M were resistant to Truseltiq (infigratinib) in culture (PMID: 25349422). | 25349422 |