FGFR2 S789* - Gene Variant Detail

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Gene FGFR2
Variant S789*
Impact List nonsense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 S789* results in a premature truncation of the Fgfr2 protein at amino acid 789 of 821 (UniProt.org). S789* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (S694*) 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 S789*

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Transcript NM_000141.5
gDNA chr10:g.121479956_121479957delCTinsAA
cDNA c.2366_2367delCTinsAA
Protein p.S789*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.2 chr10:g.121479950_121479951delCTinsAA c.2366_2367delCTinsAA p.S789* RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121479959_121479961delAGTinsTGA c.2365_2367delAGTinsTGA p.S789* RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121479956_121479957delCTinsAA c.2366_2367delCTinsAA p.S789* RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121479956_121479957delCTinsAA c.2366_2367delCTinsAA p.S789* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References