Varaico: Literature-Extracted Genetic Variants

Gene:FZD1
Variant:p.E270K

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.E270K
c.808G>A
Surrounding Variants
1 paper
NM_003505.2
p.S269A
c.805T>G
1 paper
NM_003505.2
p.A268_R271delFs
c.803_812del10
1 paper
NM_003505.2
p.G265V
c.794G>T
1 paper
NM_003505.2
p.C276R
c.826T>C
1 paper
NM_003505.2
p.G260A
c.779G>C
1 paper
NM_003505.2
p.G256E
c.767G>A
1 paper
NM_003505.2
p.S284Y
c.851C>A
1 paper
NM_003505.2
p.S284F
c.851C>T
1 paper
NM_003505.2
p.H253R
c.758A>G
1 paper
NM_003505.2
p.Y288C
c.863A>G
1 paper
NM_003505.2
p.T248A
c.742A>G
1 paper
NM_003505.2
p.L242V
c.724C>G
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