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 | FGFR3 |
Variant | G380E |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR3 G380E lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G380E results in a growth advantage in a competition assay and increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 G380E |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804393G>A |
cDNA | c.1139G>A |
Protein | p.G380E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |