Varaico: Literature-Extracted Genetic Variants

Gene:FZD6
Variant:p.I115S

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.I115S
c.344T>G
Surrounding Variants
1 paper
NM_003506.4
p.I115I
c.345C>A
1 paper
NM_003506.4
p.R116*
c.346C>T
1 paper
NM_003506.4
p.F113L
c.339T>A
1 paper
NM_003506.4
p.W117*
c.350G>A
1 paper
NM_003506.4
p.F113Y
c.338T>A
1 paper
NM_003506.4
p.W117*
c.351G>A
1 paper
NM_003506.4
p.D105H
c.313G>C
1 paper
NM_003506.4
p.R125Splc
c.374+7A>C
1 paper
NM_003506.4
p.L98H
c.293T>A
4 papers
NM_003506.4
p.R96C
c.286C>T
1 paper
NM_003506.4
p.Q88E
c.262C>G
1 paper
NM_003506.4
p.P71del1
c.211_212delCCA
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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."