Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.N262H

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
11 papers
NM_000142.5
p.N262H
c.784A>C
Surrounding Variants
1 paper
NM_000142.5
p.N262Y
c.784A>T
1 paper
NM_000142.5
p.N262fs
c.784_785fs
1 paper
NM_000142.5
p.N262_T264del0
c.786_791del6
1 paper
NM_000142.5
p.A261_N262insFs
c.783_784insG
1 paper
NM_000142.5
p.A261V
c.782C>T
1 paper
NM_000142.5
p.Q263*
c.787C>T
1 paper
NM_000142.5
p.A261P
c.781G>C
2 papers
NM_000142.5
p.A261delFs
c.783delC
1 paper
NM_000142.5
p.P260R
c.779C>G
6 papers
NM_000142.5
p.P260L
c.779C>T
1 paper
NM_000142.5
p.Q263H
c.789G>C
1 paper
NM_000142.5
p.Q263H
c.789G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."