FGFR3 S371C
Gene Variant Detail

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Gene FGFR3
Variant S371C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 S371C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). S371C confers a gain of function to the Fgfr3 protein as demonstrated by dimerization, constitutive activation, increased MAPK pathway signaling (PMID: 12009017), a growth advantage relative to wild-type Fgfr3 in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 S371C

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Transcript NM_000142.5
gDNA chr4:g.1804365A>T
cDNA c.1111A>T
Protein p.S371C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422.2 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38
NM_000142 chr4:g.1804365A>T c.1111A>T p.S371C RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries