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 | R678G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 R678G lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R678G results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 R678G |
Transcript | NM_000141.5 |
gDNA | chr10:g.121487379T>C |
cDNA | c.2032A>G |
Protein | p.R678G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |