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 | C62Y |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 C62Y lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). C62Y 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 C62Y |
Transcript | NM_000141.5 |
gDNA | chr10:g.121565629C>T |
cDNA | c.185G>A |
Protein | p.C62Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121565629C>T | c.185G>A | p.C62Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 C62Y | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |