Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.T49delFs

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.T49delFs
c.147delC
Surrounding Variants
1 paper
NM_003468.4
p.H50fs
c.148_149fs
1 paper
NM_003468.4
p.T49M
c.146C>T
1 paper
NM_003468.4
p.P52L
c.155C>T
1 paper
NM_003468.4
p.P52R
c.155C>G
3 papers
NM_003468.4
p.Y46*
c.138C>G
3 papers
NM_003468.4
p.Y46*
c.138C>A
1 paper
NM_003468.4
p.G45D
c.134G>A
1 paper
NM_003468.4
p.I44M
c.132C>G
1 paper
NM_003468.4
p.G64G
c.192C>G
1 paper
NM_003468.4
p.E75K
c.223G>A
1 paper
NM_003468.4
p.S79*
c.236C>A
1 paper
NM_003468.4
p.P80L
c.239C>T
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