Varaico: Literature-Extracted Genetic Variants

Gene:FZD6
Variant:p.E472K

FZD6

126 papers

RefSeq Summary

This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member conta...

Pfam Domains

Fzaa 24–130UCSCFz domain
Frizzledaa 189–510UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 6

HGNC Alias Symbol

Hfz6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003506.4
p.E472K
c.1414G>A
Surrounding Variants
1 paper
NM_003506.4
p.L481M
c.1441C>A
2 papers
NM_003506.4
p.G487R
c.1459G>C
1 paper
NM_003506.4
p.W493R
c.1477T>A
1 paper
NM_003506.4
p.W493*
c.1478G>A
1 paper
NM_003506.4
p.W493L
c.1478G>T
1 paper
NM_003506.4
p.W493*
c.1479G>A
1 paper
NM_003506.4
p.G495E
c.1484G>A
1 paper
NM_003506.4
p.G505R
c.1513G>A
4 papers
NM_003506.4
p.R509*
c.1525C>T
1 paper
NM_003506.4
p.R509Q
c.1526G>A
17 papers
NM_003506.4
p.R511C
c.1531C>T
5 papers
NM_003506.4
p.R511H
c.1532G>A
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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."