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 | L560F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 L560F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L560F results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 L560F |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496717G>A |
cDNA | c.1678C>T |
Protein | p.L560F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |