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 | V788M |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR3 V788M lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). V788M results in increased transformation ability in cell culture (PMID: 29533785), 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 V788M |
Transcript | NM_000142.5 |
gDNA | chr4:g.1807203G>A |
cDNA | c.2362G>A |
Protein | p.V788M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.5 | chr4:g.1807203G>A | c.2362G>A | p.V788M | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1807203G>A | c.2362G>A | p.V788M | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1807203G>A | c.2362G>A | p.V788M | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1807203G>A | c.2362G>A | p.V788M | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|