Varaico: Literature-Extracted Genetic Variants

Gene:FZD9
Variant:p.M57L

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
1 paper
NM_003508.3
p.M57L
c.169A>C
Surrounding Variants
1 paper
NM_003508.3
p.M57L
c.169A>T
1 paper
NM_003508.3
p.R48H
c.143G>A
1 paper
NM_003508.3
p.A41V
c.122C>T
1 paper
NM_003508.3
p.C39*
c.117C>A
1 paper
NM_003508.3
p.E75K
c.223G>A
1 paper
NM_003508.3
p.G35R
c.103G>C
1 paper
NM_003508.3
p.R89H
c.266G>A
1 paper
NM_003508.3
p.F90L
c.268T>C
1 paper
NM_003508.3
p.L11L
c.33G>A
1 paper
NM_003508.3
p.P107L
c.320C>T
1 paper
NM_003508.3
p.A110S
c.328G>T
1 paper
NM_003508.3
p.P134L
c.401C>T
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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."