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Gene FGFR3
Variant E627K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 E627K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E627K has been identified in sequencing studies (PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 E627K

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Transcript NM_000142.5
gDNA chr4:g.1806093G>A
cDNA c.1879G>A
Protein p.E627K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.2 chr4:g.1806093G>A c.1879G>A p.E627K RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806093G>A c.1879G>A p.E627K RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806093G>A c.1879G>A p.E627K RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806093G>A c.1879G>A p.E627K RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806093G>A c.1879G>A p.E627K RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806093G>A c.1879G>A p.E627K 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References