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Gene | FGFR3 |
Variant | R603Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR3 R603Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). R603Q 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 R603Q |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805912G>A |
cDNA | c.1808G>A |
Protein | p.R603Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047449824.1 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1805912G>A | c.1808G>A | p.R603Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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