Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.T256A

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.T256A
c.766A>G
Surrounding Variants
1 paper
NM_003468.4
p.S251T
c.751T>A
2 papers
NM_003468.4
p.R265L
c.794G>T
1 paper
NM_003468.4
p.P267A
c.799C>G
3 papers
NM_003468.4
p.P267L
c.800C>T
1 paper
NM_003468.4
p.P267R
c.800C>G
1 paper
NM_003468.4
p.S243L
c.728C>T
1 paper
NM_003468.4
p.W242L
c.725G>T
2 papers
NM_003468.4
p.L274fs
c.820_821fs
2 papers
NM_003468.4
p.L274delFs
c.820delG
1 paper
NM_003468.4
p.F237L
c.711C>G
1 paper
NM_003468.4
p.C277_Y278del1
c.831_833delTAG
1 paper
NM_003468.4
p.E231fs
c.691_692fs
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