Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C

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
1–12 of 340 variants
16 papers
NM_001080414.4
p.R464H
c.1391G>A
10 papers
NM_001080414.4
p.R1299C
c.3895C>T
7 papers
NM_001080414.4
p.D43N
c.127G>A
7 papers
NM_001080414.4
p.R312*
c.934C>T
7 papers
NM_001080414.4
p.S572L
c.1715C>T
6 papers
NM_001080414.4
p.R197Q
c.590G>A
6 papers
NM_001080414.4
p.R629Q
c.1886G>A
5 papers
NM_001080414.4
p.A1443T
c.4327G>A
4 papers
NM_001080414.4
p.R568*
c.1702C>T
4 papers
NM_001080414.4
p.E665K
c.1993G>A
4 papers
NM_001080414.4
p.P2009L
c.6026C>T
3 papers
NM_001080414.4
p.G108S
c.322G>A
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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."