Gene Variant Detail

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Gene FGFR3
Variant G375C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 G375C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). G375C results in a similar dimer formation to wild-type, but demonstrates increased Fgfr3 autophosphorylation in the absence of ligand in culture (PMID: 22529939), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 G375C

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Transcript NM_000142.5
gDNA chr4:g.1804377G>T
cDNA c.1123G>T
Protein p.G375C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_000142 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804377G>T c.1123G>T p.G375C RefSeq GRCh38/hg38

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  • 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