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 | Y812* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 Y812* results in a premature truncation of the Fgfr2 protein at amino acid 812 of 821 (UniProt.org). Y812* (corresponding to Y717* in a mouse isoform) leads to limited increase in FGFR2 signaling and colony formation in cell culture but promotes tumor formation in a mouse model (PMID: 35948633), and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 Y812* |
Transcript | NM_000141.5 |
gDNA | chr10:g.121479887A>T |
cDNA | c.2436T>A |
Protein | p.Y812* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121479887A>T | c.2436T>A | p.Y812* | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121479887A>T | c.2436T>A | p.Y812* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|