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Gene FGFR3
Variant N542K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 N542K (corresponds to N540K in the canonical isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N542K confers a gain of function to Fgfr3 as demonstrated by constitutive Src phosphorylation and anchorage-independent growth in cultured cells (PMID: 32370101).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 N542K

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Transcript NM_001163213.2
gDNA chr4:g.1805644C>G
cDNA c.1626C>G
Protein p.N542K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871.2 chr4:g.1805644C>G c.1626C>G p.N542K RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1805644C>G c.1626C>G p.N542K RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1805644C>G c.1626C>G p.N542K RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1805644C>G c.1626C>G p.N542K RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1805644C>G c.1626C>G p.N542K RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1805644C>G c.1626C>G p.N542K 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR3 N542K gain of function