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 | FGFR1 |
Variant | D320N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 D320N lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). D320N results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 D320N |
Transcript | NM_023110.3 |
gDNA | chr8:g.38421920C>T |
cDNA | c.958G>A |
Protein | p.D320N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |