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| Gene | FGFR2 |
| Variant | Y769* |
| Impact List | nonsense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 Y769* results in a premature truncation of the Fgfr2 protein at amino acid 769 of 821 (UniProt.org). Y769* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (Y674*) promotes colony formation in cell culture and leads to tumor formation in a mouse model (PMID: 35948633). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 Y769* |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121480016G>T |
| cDNA | c.2307C>A |
| Protein | p.Y769* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141 | chr10:g.121480016G>T | c.2307C>A | p.Y769* | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121480016G>T | c.2307C>A | p.Y769* | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121480016G>T | c.2307C>A | p.Y769* | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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