Varaico: Literature-Extracted Genetic Variants

Gene:FZD1
Variant:p.G312V

FZD1

134 papers

RefSeq Summary

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N...

Pfam Domains

Fzaa 116–222UCSCFz domain
Frizzledaa 310–637UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 1

HGNC Alias Symbols

DKFZp564G072; Hfz1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003505.2
p.G312V
c.935G>T
Surrounding Variants
1 paper
NM_003505.2
p.G312A
c.935G>C
1 paper
NM_003505.2
p.P313A
c.937C>G
1 paper
NM_003505.2
p.P313S
c.937C>T
1 paper
NM_003505.2
p.E314*
c.940G>T
1 paper
NM_003505.2
p.L316V
c.946C>G
1 paper
NM_003505.2
p.L308R
c.923T>G
1 paper
NM_003505.2
p.G307R
c.919G>A
1 paper
NM_003505.2
p.G307R
c.919G>C
1 paper
NM_003505.2
p.S319S
c.957G>A
1 paper
NM_003505.2
p.R320S
c.958C>A
1 paper
NM_003505.2
p.G324A
c.971G>C
1 paper
NM_003505.2
p.Y288C
c.863A>G
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