Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.E181*

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.E181*
c.541G>T
Surrounding Variants
1 paper
NM_003468.4
p.E181fs
c.541_542fs
1 paper
NM_003468.4
p.P183S
c.547C>T
1 paper
NM_003468.4
p.P176S
c.526C>T
1 paper
NM_003468.4
p.C192G
c.574T>G
1 paper
NM_003468.4
p.L169fs
c.505_506fs
1 paper
NM_003468.4
p.T168_L169insFs
c.502_505dup4
1 paper
NM_003468.4
p.R193C
c.577C>T
1 paper
NM_003468.4
p.E194K
c.580G>A
1 paper
NM_003468.4
p.P195L
c.584C>T
1 paper
NM_003468.4
p.P162S
c.484C>T
1 paper
NM_003468.4
p.P159H
c.476C>A
2 papers
NM_003468.4
p.E154V
c.461A>T
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."