Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.E198fs

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.E198fs
c.592_593fs
Surrounding Variants
2 papers
NM_000142.5
p.E198K
c.592G>A
4 papers
NM_000142.5
p.E198*
c.592G>T
1 paper
NM_000142.5
p.E198A
c.593A>C
2 papers
NM_000142.5
p.G197D
c.590G>A
1 paper
NM_000142.5
p.H199insFs
c.596dupA
1 paper
NM_000142.5
p.H199D
c.595C>G
1 paper
NM_000142.5
p.H199Y
c.595C>T
2 papers
NM_000142.5
p.G197S
c.589G>A
1 paper
NM_000142.5
p.R196R
c.588C>T
1 paper
NM_000142.5
p.H199H
c.597C>T
1 paper
NM_000142.5
p.R196H
c.587G>A
1 paper
NM_000142.5
p.R196P
c.587G>C
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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."