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 | D471N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 D471N lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). D471N results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 D471N |
Transcript | NM_000141.5 |
gDNA | chr10:g.121503818C>T |
cDNA | c.1411G>A |
Protein | p.D471N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121503818C>T | c.1411G>A | p.D471N | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121503818C>T | c.1411G>A | p.D471N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 D471N | no effect - predicted |