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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_000141.5 | 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 | chr10:g.121480016G>T | c.2307C>A | p.Y769* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 Y769* | breast cancer | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, AZD4547 inhibited growth of mouse mammary epithelial cells expressing FGFR2 Y674* (corresponding to Y769* in human) in culture (PMID: 35948633). | 35948633 |
FGFR2 Y769* | breast cancer | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 Y674* (corresponding to Y769* in human) in culture (PMID: 35948633). | 35948633 |