Gene Variant Detail

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Gene FGFR3
Variant S780C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR3 S780C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). S780C has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 S780C

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Transcript NM_000142.4
gDNA chr4:g.1807180C>G
cDNA c.2339C>G
Protein p.S780C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354809.1 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38
NM_000142 chr4:g.1807180C>G c.2339C>G p.S780C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1807180C>G c.2339C>G p.S780C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38

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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")

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