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Gene FGFR3
Variant S679F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 S679F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S679F has been identified in sequencing studies (PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 S679F

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Transcript NM_000142.5
gDNA chr4:g.1806551C>T
cDNA c.2036C>T
Protein p.S679F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142.4 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_006713869 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
NM_000142 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38
XM_006713868 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1806320_1806321delAGinsTT c.2035_2036delAGinsTT p.S679F RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806551C>T c.2036C>T p.S679F RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • 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