Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.Y150Y

FZD5

90 papers

RefSeq Summary

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [prov...

Pfam Domains

Fzaa 33–140UCSCFz domain
Frizzledaa 226–537UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 5

HGNC Previous Symbol

C2orf31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003468.4
p.Y150Y
c.450C>T
Surrounding Variants
1 paper
NM_003468.4
p.S153S
c.459C>T
2 papers
NM_003468.4
p.E154V
c.461A>T
1 paper
NM_003468.4
p.E144K
c.430G>A
1 paper
NM_003468.4
p.P159H
c.476C>A
1 paper
NM_003468.4
p.P162S
c.484C>T
1 paper
NM_003468.4
p.T168_L169insFs
c.502_505dup4
1 paper
NM_003468.4
p.L169fs
c.505_506fs
1 paper
NM_003468.4
p.R130C
c.388C>T
2 papers
NM_003468.4
p.R130S
c.388C>A
1 paper
NM_003468.4
p.P176S
c.526C>T
1 paper
NM_003468.4
p.E181*
c.541G>T
1 paper
NM_003468.4
p.S117_L119delFs
c.350_356del7
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