FGFR2 S782Rfs*3
Gene Variant Detail

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Gene FGFR2
Variant S782Rfs*3
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 S782Rfs*3 indicates a shift in the reading frame starting at amino acid 776 and terminating 6 residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). S782Rfs*3 is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (S687Rfs*3) 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 S782Rfs*3

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Transcript NM_000141.5
gDNA chr10:g.121479976_121479977delAA
cDNA c.2346_2347delTT
Protein p.S782Rfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121479976_121479977delAA c.2346_2347delTT p.S782Rfs*3 RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121479976_121479977delAA c.2346_2347delTT p.S782Rfs*3 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries