Gene Variant Detail

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Gene FGFR3
Variant R621H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR3 R621H lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). R621H 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 R621H

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Transcript NM_000142.5
gDNA chr4:g.1806076G>A
cDNA c.1862G>A
Protein p.R621H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449824.1 chr4:g.1806076G>A c.1862G>A p.R621H RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806076G>A c.1862G>A p.R621H RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806076G>A c.1862G>A p.R621H RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806076G>A c.1862G>A p.R621H RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806076G>A c.1862G>A p.R621H RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806076G>A c.1862G>A p.R621H RefSeq GRCh38/hg38

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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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References