Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.M447L

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.M447L
c.1339A>T
Surrounding Variants
1 paper
NM_003468.4
p.M447L
c.1339A>C
1 paper
NM_003468.4
p.F453L
c.1357T>C
1 paper
NM_003468.4
p.D441Y
c.1321G>T
1 paper
NM_003468.4
p.F453L
c.1359C>G
1 paper
NM_003468.4
p.F453L
c.1359C>A
1 paper
NM_003468.4
p.T440A
c.1318A>G
1 paper
NM_003468.4
p.T438S
c.1313C>G
1 paper
NM_003468.4
p.T438S
c.1312A>T
1 paper
NM_003468.4
p.G437_T438ins4
c.1311_1312ins12
1 paper
NM_003468.4
p.L456L
c.1368C>T
1 paper
NM_003468.4
p.Y457Y
c.1371C>T
1 paper
NM_003468.4
p.Q435_G436ins1
c.1305_1306insCAG
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