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Gene FGFR2
Variant L617M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 L617M lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L617M has been demonstrated to confer resistance to FGFR inhibitors as a secondary resistance mutation in the context of FGFR2 fusions (PMID: 31911531), 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 L617M

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Transcript NM_000141.5
gDNA chr10:g.121496546A>T
cDNA c.1849T>A
Protein p.L617M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121496546A>T c.1849T>A p.L617M RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121485447G>T c.1849C>A p.L617M RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121485396G>T c.1849C>A p.L617M RefSeq GRCh38/hg38
XM_017015925.2 chr10:g.121485447G>T c.1849C>A p.L617M RefSeq GRCh38/hg38
NM_000141 chr10:g.121496546A>T c.1849T>A p.L617M RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121485396G>T c.1849C>A p.L617M RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121485454_121485456delCTTinsATG c.1849_1851delCTTinsATG p.L617M RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496546A>T c.1849T>A p.L617M RefSeq GRCh38/hg38
NM_001144916 chr10:g.121485396G>T c.1849C>A p.L617M RefSeq GRCh38/hg38
XM_024447891.1 chr10:g.121485454_121485456delCTTinsATG c.1849_1851delCTTinsATG p.L617M RefSeq GRCh38/hg38
XM_017015925 chr10:g.121485447G>T c.1849C>A p.L617M RefSeq GRCh38/hg38
XM_006717712 chr10:g.121485454_121485456delAAGinsCAT c.1849_1851delCTTinsATG p.L617M RefSeq GRCh38/hg38

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