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Gene | FGFR3 |
Variant | P283S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR3 P283S lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). P283S results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 P283S |
Transcript | NM_000142.5 |
gDNA | chr4:g.1801942C>T |
cDNA | c.847C>T |
Protein | p.P283S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713870.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713868.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713869 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713868.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_022965.3 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713869.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_022965 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713870 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713871 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_022965.4 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713868 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_047449821.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_047449820.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713870.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713869.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1801942C>T | c.847C>T | p.P283S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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