Varaico: Literature-Extracted Genetic Variants

Gene:FZD9
Variant:p.R145H

FZD9

55 papers

RefSeq Summary

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion regio...

Pfam Domains

Fzaa 39–146UCSCFz domain
Frizzledaa 222–544UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 9

HGNC Alias Symbol

CD349

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003508.3
p.R145H
c.434G>A
Surrounding Variants
1 paper
NM_003508.3
p.T144P
c.430A>C
1 paper
NM_003508.3
p.H149H
c.447C>T
1 paper
NM_003508.3
p.A150V
c.449C>T
1 paper
NM_003508.3
p.A150A
c.450G>T
1 paper
NM_003508.3
p.A155V
c.464C>T
1 paper
NM_003508.3
p.P156S
c.466C>T
1 paper
NM_003508.3
p.P134L
c.401C>T
1 paper
NM_003508.3
p.G162delFs
c.484delG
1 paper
NM_003508.3
p.G162fs
c.484_485fs
1 paper
NM_003508.3
p.A176insFs
c.527dupC
1 paper
NM_003508.3
p.A110S
c.328G>T
1 paper
NM_003508.3
p.R181del1
c.541_543delCGC
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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."