Varaico: Literature-Extracted Genetic Variants

Gene:FZD6
Variant:p.E584*

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
9 papers
NM_003506.4
p.E584*
c.1750G>T
Surrounding Variants
1 paper
NM_003506.4
p.P593T
c.1777C>A
1 paper
NM_003506.4
p.R598T
c.1793G>C
1 paper
NM_003506.4
p.D603D
c.1809C>T
3 papers
NM_003506.4
p.G604R
c.1810G>A
3 papers
NM_003506.4
p.G604R
c.1810G>C
5 papers
NM_003506.4
p.G559fs
c.1675_1676fs
3 papers
NM_003506.4
p.G559_S561delFs
c.1676_1683del8
3 papers
NM_003506.4
p.C615insFs
c.1843_1844insA
3 papers
NM_003506.4
p.C615*
c.1845T>A
3 papers
NM_003506.4
p.S620T
c.1858T>A
2 papers
NM_003506.4
p.S620delFs
c.1859delC
3 papers
NM_003506.4
p.S620fs
c.1858_1859fs
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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."