Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
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_001144916 | chr10:g.121485396G>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_024447891.2 | chr10:g.121485454_121485456delCTTinsATG | c.1849_1851delCTTinsATG | p.L617M | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496546A>T | c.1849T>A | p.L617M | RefSeq | GRCh38/hg38 |
NM_000141.4 | 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 |
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 |
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_017015925.2 | chr10:g.121485447G>T | c.1849C>A | p.L617M | RefSeq | GRCh38/hg38 |
XM_024447891.1 | chr10:g.121485454_121485456delCTTinsATG | c.1849_1851delCTTinsATG | p.L617M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 L617M | unknown |