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Gene FGFR3
Variant K650Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 K650Q (also referred to as K652Q from the FGFR3IIIb isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650Q confers a gain of function to the Fgfr3 protein as demonstrated by increased autophosphorylation in culture (PMID: 11055896), a growth advantage in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 K650Q

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Transcript NM_000142.5
gDNA chr4:g.1806162A>C
cDNA c.1948A>C
Protein p.K650Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422.2 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_006713872 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_000142 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806162A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_011513422 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1806159A>C c.1948A>C p.K650Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References