Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.E47K

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
1 paper
NM_000142.5
p.E47K
c.139G>A
Surrounding Variants
1 paper
NM_000142.5
p.Q46Q
c.138G>A
3 papers
NM_000142.5
p.Q46*
c.136C>T
1 paper
NM_000142.5
p.Q46delFs
c.136_137delCA
2 papers
NM_000142.5
p.Q45R
c.134A>G
3 papers
NM_000142.5
p.L49V
c.145T>G
12 papers
NM_000142.5
p.G44S
c.130G>A
9 papers
NM_000142.5
p.V50I
c.148G>A
1 paper
NM_000142.5
p.G44C
c.130G>T
1 paper
NM_000142.5
p.V50F
c.148G>T
1 paper
NM_000142.5
p.P43_Q46delFs
c.128_138del11
1 paper
NM_000142.5
p.F51insFs
c.152_153insC
5 papers
NM_000142.5
p.E42K
c.124G>A
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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."