Varaico: Literature-Extracted Genetic Variants

Gene:FZD1
Variant:p.R536H

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
2 papers
NM_003505.2
p.R536H
c.1607G>A
Surrounding Variants
1 paper
NM_003505.2
p.T549T
c.1647C>T
2 papers
NM_003505.2
p.R517H
c.1550G>A
1 paper
NM_003505.2
p.T503M
c.1508C>T
1 paper
NM_003505.2
p.T503P
c.1507A>C
1 paper
NM_003505.2
p.Q572L
c.1715A>T
1 paper
NM_003505.2
p.V491M
c.1471G>A
1 paper
NM_003505.2
p.P582S
c.1744C>T
1 paper
NM_003505.2
p.L584P
c.1751T>C
1 paper
NM_003505.2
p.L487V
c.1459C>G
1 paper
NM_003505.2
p.A486V
c.1457C>T
1 paper
NM_003505.2
p.A586V
c.1757C>T
1 paper
NM_003505.2
p.G589insFs
c.1765_1766ins22
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."