Varaico: Literature-Extracted Genetic Variants

Gene:FZD9
Variant:p.G492R

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.G492R
c.1474G>C
Surrounding Variants
1 paper
NM_003508.3
p.G492R
c.1474G>A
1 paper
NM_003508.3
p.G492delFs
c.1475delG
1 paper
NM_003508.3
p.R494fs
c.1480_1481fs
1 paper
NM_003508.3
p.R494delFs
c.1481delG
1 paper
NM_003508.3
p.C541_R543del3
c.1621_1628del9
1 paper
NM_003508.3
p.C541_R543del0
c.1622_1627del6
1 paper
NM_003508.3
p.E442E
c.1326G>A
2 papers
NM_003508.3
p.K440R
c.1319A>G
1 paper
NM_003508.3
p.R428C
c.1282C>T
1 paper
NM_003508.3
p.K570M
c.1709A>T
1 paper
NM_003508.3
p.Y409C
c.1226A>G
1 paper
NM_003508.3
p.L576W
c.1727T>G
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