Gene Variant Detail

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Gene FGFR2
Variant L617V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 L617V (also referred to as V618V from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L617V has been shown to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), and demonstrates increased Fgfr2 kinase activity compared to wild-type in vitro (PMID: 28166054), and therefore, is predicted to result in a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 L617V

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Transcript NM_000141.4
gDNA chr10:g.121496546A>C
cDNA c.1849T>G
Protein p.L617V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015925.2 chr10:g.121485447G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_001144916 chr10:g.121485396G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_000141 chr10:g.121496546A>C c.1849T>G p.L617V RefSeq GRCh38/hg38
XM_017015925 chr10:g.121485447G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496546A>C c.1849T>G p.L617V RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121485396G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
XM_024447891.1 chr10:g.121485456G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
XM_006717712 chr10:g.121485456G>C c.1849C>G p.L617V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References