Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.D97V

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.D97V
c.290A>T
Surrounding Variants
1 paper
NM_003468.4
p.P96P
c.288C>T
1 paper
NM_003468.4
p.P103R
c.308C>G
1 paper
NM_003468.4
p.Y90H
c.268T>C
1 paper
NM_003468.4
p.S107*
c.320C>A
1 paper
NM_003468.4
p.K113Q
c.337A>C
1 paper
NM_003468.4
p.P80L
c.239C>T
1 paper
NM_003468.4
p.S79*
c.236C>A
2 papers
NM_003468.4
p.S117*
c.350C>A
1 paper
NM_003468.4
p.E75K
c.223G>A
1 paper
NM_003468.4
p.S117_L119delFs
c.350_356del7
1 paper
NM_003468.4
p.R130C
c.388C>T
1 paper
NM_003468.4
p.G64G
c.192C>G
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