Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.E709K

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
10 papers
NM_000142.5
p.E709K
c.2125G>A
Surrounding Variants
2 papers
NM_000142.5
p.E709*
c.2125G>T
5 papers
NM_000142.5
p.E709A
c.2126A>C
1 paper
NM_000142.5
p.E709G
c.2126A>G
1 paper
NM_000142.5
p.E709V
c.2126A>T
1 paper
NM_000142.5
p.K708N
c.2124G>C
1 paper
NM_000142.5
p.K708N
c.2124G>T
1 paper
NM_000142.5
p.G710S
c.2128G>A
2 papers
NM_000142.5
p.G710C
c.2128G>T
1 paper
NM_000142.5
p.G710fs
c.2128_2129fs
3 papers
NM_000142.5
p.G710D
c.2129G>A
1 paper
NM_000142.5
p.G710A
c.2129G>C
1 paper
NM_000142.5
p.L707_K708ins3
c.2121_2122ins9
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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."