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Gene FGFR2
Variant V514L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 V514L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V514L has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 V514L

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Transcript NM_000141.5
gDNA chr10:g.121500847C>G
cDNA c.1540G>C
Protein p.V514L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015920 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_017015920.2 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_006717708.3 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_017015920.3 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_006717708 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_001320658 chr10:g.121500841C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121500847C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121500847C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_000141 chr10:g.121500847C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_006717708.4 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121500841C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121500841C>G c.1540G>C p.V514L RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 V514L lung non-small cell carcinoma no benefit AZD4547 Case Reports/Case Series Actionable In a Phase II trial (NLMT), AZD4547 treatment did not result in a confirmed response or durable clinical benefit in a patient with non-small cell lung cancer harboring FGFR2 V515L (corresponds to V514L in the canonical isoform (PMID: 32669708, NCT02664935). 32669708