FGFR3 D513N - Gene Variant Detail

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Gene FGFR3
Variant D513N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 D513N lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D513N results in increased signaling in the presence or absence of ligand compared to wild-type Fgfr3 in culture (PMID: 38411226), 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 D513N

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Transcript NM_000142.5
gDNA chr4:g.1805561G>A
cDNA c.1537G>A
Protein p.D513N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449824.1 chr4:g.1805561G>A c.1537G>A p.D513N RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805561G>A c.1537G>A p.D513N RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805561G>A c.1537G>A p.D513N RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805561G>A c.1537G>A p.D513N 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
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Molecular Profile Protein Effect Treatment Approaches
FGFR3 D513N gain of function - predicted