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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 results in similar cell proliferation and viability levels as wild-type Fgfr3 in culture (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_000142.5
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
NM_000142.5 chr4:g.1807180C>G c.2339C>G p.S780C RefSeq GRCh38/hg38
XM_047449822.1 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
XM_006713873.1 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38
XM_047449823.1 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_047449824.1 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
NM_001354809.2 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1807176A>T c.2338A>T p.S780C RefSeq GRCh38/hg38

Filtering

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