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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 |
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 |
---|---|---|---|---|---|
XM_047449823.1 | chr4:g.1807176A>T | c.2338A>T | p.S780C | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1807180C>G | c.2339C>G | p.S780C | RefSeq | GRCh38/hg38 |
NM_001354809.2 | 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_047449824.1 | chr4:g.1807180C>G | c.2339C>G | p.S780C | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1807180C>G | c.2339C>G | 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_001354809.1 | chr4:g.1807176A>T | c.2338A>T | p.S780C | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1807176A>T | c.2338A>T | p.S780C | RefSeq | GRCh38/hg38 |
XM_006713873 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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