Varaico: Literature-Extracted Genetic Variants

Gene:FZD1
Variant:p.A453T

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.A453T
c.1357G>A
Surrounding Variants
1 paper
NM_003505.2
p.P455P
c.1365G>A
1 paper
NM_003505.2
p.I462I
c.1386C>T
1 paper
NM_003505.2
p.E441K
c.1321G>A
1 paper
NM_003505.2
p.G436fs
c.1306_1307fs
1 paper
NM_003505.2
p.G436delFs
c.1307delG
1 paper
NM_003505.2
p.L481P
c.1442T>C
1 paper
NM_003505.2
p.A486V
c.1457C>T
1 paper
NM_003505.2
p.L487V
c.1459C>G
1 paper
NM_003505.2
p.V491M
c.1471G>A
1 paper
NM_003505.2
p.T503P
c.1507A>C
1 paper
NM_003505.2
p.T503M
c.1508C>T
1 paper
NM_003505.2
p.E400K
c.1198G>A
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