Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.C507F

FZD4

267 papers

RefSeq Summary

This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling ...

Pfam Domains

Fzaa 45–152UCSCFz domain
Frizzledaa 210–511UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

frizzled class receptor 4

HGNC Previous Symbol

EVR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_012193.4
p.C507F
c.1520G>T
Surrounding Variants
1 paper
NM_012193.4
p.S508A
c.1522T>G
3 papers
NM_012193.4
p.S508Y
c.1523C>A
1 paper
NM_012193.4
p.K506*
c.1516A>T
9 papers
NM_012193.4
p.Q505*
c.1513C>T
1 paper
NM_012193.4
p.W504C
c.1512G>T
1 paper
NM_012193.4
p.W504C
c.1512G>C
1 paper
NM_012193.4
p.W504*
c.1512G>A
1 paper
NM_012193.4
p.W504delFs
c.1510_1511delCA
1 paper
NM_012193.4
p.W504*
c.1511G>A
1 paper
NM_012193.4
p.T503del1
c.1507_1508delCGT
2 papers
NM_012193.4
p.T503insFs
c.1508_1509insC
4 papers
NM_012193.4
p.T503fs
c.1507_1508fs
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