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Gene | FGFR3 |
Variant | R421Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 R421Q lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R421Q has been identified in sequencing studies (PMID: 27701467), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 R421Q |
Transcript | NM_000142.4 |
gDNA | chr4:g.1804516G>A |
cDNA | c.1262G>A |
Protein | p.R421Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.4 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1804516G>A | c.1262G>A | p.R421Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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