FGFR3 N540K
Gene Variant Detail

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Gene FGFR3
Variant N540K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 N540K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540K results in increased Fgfr3 autophosphorylation and substrate phosphorylation, and is transforming in cell culture (PMID: 26992226).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 N540K

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Transcript NM_000142.5
gDNA chr4:g.1805644C>G
cDNA c.1620C>G
Protein p.N540K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449821.1 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805644C>G c.1620C>G p.N540K 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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Molecular Profile Protein Effect Treatment Approaches
FGFR3 N540K gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 S249C FGFR3 N540K
FGFR3 S249C FGFR3 N540K PIK3CA E545K
FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V
FGFR3 Y373C FGFR3 N540K