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Gene FGFR3
Variant N540S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 N540S lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540S results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226), 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 N540S

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Transcript NM_000142.5
gDNA chr4:g.1805643A>G
cDNA c.1619A>G
Protein p.N540S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449823.1 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1805634A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
NM_000142 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_006713870 chr4:g.1805634A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1805634A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1805634A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805643A>G c.1619A>G p.N540S RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries