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 | V564I |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 V564I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564I confers a gain of function to the Fgfr2 protein as indicated by increased Fgfr2 kinase activity (PMID: 25169980), results in FGF2-independent phosphorylation of Akt and Erk in cell culture (PMID: 29540482), and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V564I |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121496705C>T |
| cDNA | c.1690G>A |
| Protein | p.V564I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144916 | chr10:g.121487376C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| NM_001144916.2 | chr10:g.121487376C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121496705C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121496705C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| NM_001144916.1 | chr10:g.121487376C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| XM_024447887.1 | chr10:g.121488077C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| XM_024447887.2 | chr10:g.121488077C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121496705C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|