Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.S572L

CCDC88C

226 papers

RefSeq Summary

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein enco...

Pfam Domains

HOOK_Naa 13–161UCSCHOOK domain

Gene Aliases

HGNC Name

coiled-coil and HOOK domain protein 88C

HGNC Previous Symbol

KIAA1509

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001080414.4
p.S572L
c.1715C>T
Surrounding Variants
1 paper
NM_001080414.4
p.R574W
c.1720C>T
1 paper
NM_001080414.4
p.R568Q
c.1703G>A
4 papers
NM_001080414.4
p.R568*
c.1702C>T
1 paper
NM_001080414.4
p.R584C
c.1750C>T
1 paper
NM_001080414.4
p.A594V
c.1781C>T
1 paper
NM_001080414.4
p.T600M
c.1799C>T
1 paper
NM_001080414.4
p.Q608H
c.1824G>T
1 paper
NM_001080414.4
p.Q608H
c.1824G>C
1 paper
NM_001080414.4
p.R618S
c.1854G>T
1 paper
NM_001080414.4
p.R618S
c.1854G>C
1 paper
NM_001080414.4
p.K626N
c.1878G>T
1 paper
NM_001080414.4
p.K626N
c.1878G>C
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