FGFR3 S424F
Gene Variant Detail

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Gene FGFR3
Variant S424F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 S424F lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). S424F results in decreased serum dependency for growth in culture (PMID: 40526877), 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 S424F

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Transcript NM_000142.5
gDNA chr4:g.1804828C>T
cDNA c.1271C>T
Protein p.S424F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449824.1 chr4:g.1804828C>T c.1271C>T p.S424F RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804828C>T c.1271C>T p.S424F RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804828C>T c.1271C>T p.S424F RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804828C>T c.1271C>T p.S424F RefSeq GRCh38/hg38

Filtering

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries