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Gene FGFR3
Variant Y647C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 Y647C lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). Y647C results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226), 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 Y647C

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Transcript NM_000142.5
gDNA chr4:g.1806154A>G
cDNA c.1940A>G
Protein p.Y647C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806154A>G c.1940A>G p.Y647C 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")

Sorting

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