FGFR3 D318N - Gene Variant Detail

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Gene FGFR3
Variant D318N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 D318N lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). D318N 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 D318N

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Transcript NM_000142.5
gDNA chr4:g.1803713G>A
cDNA c.952G>A
Protein p.D318N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449822.1 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1803713G>A c.952G>A p.D318N RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1803713G>A c.952G>A p.D318N 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 D318N gain of function - predicted