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 | Q259* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FGFR2 Q259* results in a premature truncation of the Fgfr2 protein at amino acid 259 of 821 (UniProt.org). Q259* results in cell proliferation and viability levels similar to wild-type Fgfr2 in two different cell lines (PMID: 29533785), but decreased proliferation relative to wild-type Fgfr2 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 Q259* FGFR2 mutant FGFR2 inact mut FGFR2 Q259* |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121520143G>A |
| cDNA | c.775C>T |
| Protein | p.Q259* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144913 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144917 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121518727G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144919 | chr10:g.121518727G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144919.1 | chr10:g.121518727G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121520143G>A | c.775C>T | p.Q259* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|