Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.E565*

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.E565*
c.1693G>T
Surrounding Variants
1 paper
NM_022965.4
p.E453_F454delFs
c.1358_1361del4
5 papers
NM_000142.5
p.E565A
c.1694A>C
4 papers
NM_000142.5
p.E565G
c.1694A>G
1 paper
NM_000142.5
p.F566_S578del13
c.1696_1733del39
3 papers
NM_000142.5
p.R564W
c.1690C>T
1 paper
NM_000142.5
p.L567M
c.1699C>A
1 paper
NM_000142.5
p.L563V
c.1687C>G
1 paper
NM_000142.5
p.L567P
c.1700T>C
1 paper
NM_000142.5
p.L567L
c.1701G>C
1 paper
NM_000142.5
p.R568W
c.1702C>T
1 paper
NM_001354809.2
p.G562V
c.1685G>T
2 papers
NM_000142.5
p.G561S
c.1681G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."