Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.W522*

FZD5

90 papers

RefSeq Summary

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [prov...

Pfam Domains

Fzaa 33–140UCSCFz domain
Frizzledaa 226–537UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 5

HGNC Previous Symbol

C2orf31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003468.4
p.W522*
c.1565G>A
Surrounding Variants
1 paper
NM_003468.4
p.W522*
c.1566G>A
1 paper
NM_003468.4
p.S523A
c.1567T>G
1 paper
NM_003468.4
p.T526A
c.1576A>G
1 paper
NM_003468.4
p.E528A
c.1583A>C
1 paper
NM_003468.4
p.S529A
c.1585T>G
1 paper
NM_003468.4
p.W530*
c.1589G>A
1 paper
NM_003468.4
p.W530*
c.1590G>A
2 papers
NM_003468.4
p.M504L
c.1510A>T
2 papers
NM_003468.4
p.M504L
c.1510A>C
1 paper
NM_003468.4
p.E499G
c.1496A>G
1 paper
NM_003468.4
p.E499*
c.1495G>T
1 paper
NM_003468.4
p.A550T
c.1648G>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."