Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.N718S

FGFR3

3,257 papers

RefSeq Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members ...

Pfam Domains

I-setaa 159–245UCSCImmunoglobulin I-set domain
Ig_3aa 252–343UCSCImmunoglobulin domain
FGFR3_TMaa 372–397UCSCFibroblast growth factor receptor 3 transmembrane domain
PK_Tyr_Ser-Thraa 472–748UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 3

HGNC Previous Symbol

ACH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000142.5
p.N718S
c.2153A>G
Surrounding Variants
2 papers
NM_000142.5
p.C719S
c.2155T>A
NM_001163213.2
p.C721S
c.2161T>A
1 paper
NM_000142.5
p.C719delFs
c.2156delG
1 paper
NM_000142.5
p.A717V
c.2150C>T
3 papers
NM_000142.5
p.C719S
c.2156G>C
NM_001163213.2
p.C721S
c.2162G>C
1 paper
NM_000142.5
p.A717T
c.2149G>A
3 papers
NM_000142.5
p.P716P
c.2148C>T
1 paper
NM_001163213.2
p.H723_D724insGGA
c.2167_2171ins9
1 paper
NM_000142.5
p.H721Y
c.2161C>T
1 paper
NM_000142.5
p.H721R
c.2162A>G
4 papers
NM_000142.5
p.K715M
c.2144A>T
1 paper
NM_000142.5
p.K715E
c.2143A>G
3 papers
NM_000142.5
p.D722N
c.2164G>A
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