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Gene FGFR2
Variant L776Rfs*6
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 L776Rfs*6 indicates a shift in the reading frame starting at amino acid 776 and terminating six residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). L776Rfs*6 is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (L681Rfs*6) 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 L776Rfs*6

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Transcript NM_000141.5
gDNA chr10:g.121479998_121479999delAG
cDNA c.2327_2328delTC
Protein p.L776Rfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121479998_121479999delAG c.2327_2328delTC p.L776Rfs*6 RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121479998_121479999delAG c.2327_2328delTC p.L776Rfs*6 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 L776Rfs*6 breast cancer predicted - sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, AZD4547 inhibited growth of mouse mammary epithelial cells expressing FGFR2 L681Rfs*6 (corresponding to L776Rfs*6 in human) in culture (PMID: 35948633). 35948633
FGFR2 L776Rfs*6 breast cancer predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, Pemazyre (pemigatinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 L681Rfs*6 (corresponding to L776Rfs*6 in human) in culture (PMID: 35948633). 35948633