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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_000141.4 | chr10:g.121479887A>T | c.2436T>A | p.Y812* | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121479887A>T | c.2436T>A | p.Y812* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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