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Gene FGFR3
Variant R421Q
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 R421Q lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R421Q results in increased signaling in the presence or absence of ligand compared to wild-type Fgfr3 in culture (PMID: 38411226), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 R421Q

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Transcript NM_000142.5
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
XM_011513420.2 chr4:g.1804516G>A c.1262G>A p.R421Q RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804516G>A c.1262G>A p.R421Q RefSeq GRCh38/hg38
XM_047449823.1 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
NM_001354809.2 chr4:g.1804516G>A c.1262G>A p.R421Q RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804516G>A c.1262G>A p.R421Q RefSeq GRCh38/hg38
XM_047449822.1 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_011513420.1 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
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_047449824.1 chr4:g.1804516G>A c.1262G>A p.R421Q RefSeq GRCh38/hg38
XM_011513422.2 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
NM_001354810.1 chr4:g.1804516G>A c.1262G>A p.R421Q RefSeq GRCh38/hg38
NM_000142.4 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_001354810.2 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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
FGFR3 R421Q gain of function - predicted