Varaico: Literature-Extracted Genetic Variants

Gene:FZD7
Variant:p.P285S

FZD7

82 papers

RefSeq Summary

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residu...

Pfam Domains

Fzaa 49–155UCSCFz domain
Frizzledaa 244–564UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 7

HGNC Alias Symbol

FzE3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003507.2
p.P285S
c.853C>T
Surrounding Variants
1 paper
NM_003507.2
p.Y284H
c.850T>C
1 paper
NM_003507.2
p.G294D
c.881G>A
1 paper
NM_003507.2
p.G294A
c.881G>C
1 paper
NM_003507.2
p.V272I
c.814G>A
1 paper
NM_003507.2
p.L308delFs
c.922delC
1 paper
NM_003507.2
p.L308fs
c.922_923fs
1 paper
NM_003507.2
p.E310G
c.929A>G
1 paper
NM_003507.2
p.D311A
c.932A>C
1 paper
NM_003507.2
p.L255F
c.763C>T
1 paper
NM_003507.2
p.A253S
c.757G>T
1 paper
NM_003507.2
p.R318H
c.953G>A
1 paper
NM_003507.2
p.R318P
c.953G>C
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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."