Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.P195L

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.P195L
c.584C>T
Surrounding Variants
1 paper
NM_003468.4
p.E194K
c.580G>A
1 paper
NM_003468.4
p.R193C
c.577C>T
1 paper
NM_003468.4
p.C192G
c.574T>G
1 paper
NM_003468.4
p.P183S
c.547C>T
1 paper
NM_003468.4
p.E181fs
c.541_542fs
1 paper
NM_003468.4
p.E181*
c.541G>T
1 paper
NM_003468.4
p.G213S
c.637G>A
1 paper
NM_003468.4
p.Q214R
c.641A>G
1 paper
NM_003468.4
p.P176S
c.526C>T
3 papers
NM_003468.4
p.P216L
c.647C>T
1 paper
NM_003468.4
p.C218Y
c.653G>A
5 papers
NM_003468.4
p.A219fs
c.655_656fs
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