Varaico: Literature-Extracted Genetic Variants

Gene:FZD1
Variant:p.L61P

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.L61P
c.182T>C
Surrounding Variants
1 paper
NM_003505.2
p.A64T
c.190G>A
1 paper
NM_003505.2
p.L55L
c.165G>A
1 paper
NM_003505.2
p.R53P
c.158G>C
1 paper
NM_003505.2
p.R71W
c.211C>T
1 paper
NM_003505.2
p.R50*
c.148C>T
1 paper
NM_003505.2
p.A75T
c.223G>A
1 paper
NM_003505.2
p.P79_P83del0
c.237_248del12
1 paper
NM_003505.2
p.Q77_P85delFs
c.231_255del25
1 paper
NM_003505.2
p.P45L
c.134C>T
1 paper
NM_003505.2
p.Q81R
c.242A>G
1 paper
NM_003505.2
p.G36E
c.107G>A
1 paper
NM_003505.2
p.Q87*
c.259C>T
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