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 | Y328N |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 Y328N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Y328N results in decreased proliferation in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 Y328N |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121517421A>T |
| cDNA | c.982T>A |
| Protein | p.Y328N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001320658.2 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 Y328N | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |