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 | K41E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 K41E lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). K41E results in decreased Fgfr2 expression, but demonstrates subcellular localization, basal and ligand-dependent Erk phosphorylation levels similar to wild-type Fgfr2 in culture (PMID: 30761385), and therefore, is predicted to have no effect on Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 K41E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121565693T>C |
cDNA | c.121A>G |
Protein | p.K41E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |