Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.E2024A

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
1 paper
NM_001080414.4
p.E2024A
c.6071A>C
Surrounding Variants
1 paper
NM_001080414.4
p.E2024K
c.6070G>A
1 paper
NM_001080414.4
p.Y2025F
c.6074A>T
1 paper
NM_001080414.4
p.Q2019*
c.6055C>T
1 paper
NM_001080414.4
p.V2028_*2029delFs
c.6083_6086del4
2 papers
NM_001080414.4
p.G2015S
c.6043G>A
4 papers
NM_001080414.4
p.P2009L
c.6026C>T
1 paper
NM_001080414.4
p.A1995A
c.5985C>T
1 paper
NM_001080414.4
p.A1995T
c.5983G>A
1 paper
NM_001080414.4
p.R1994G
c.5980C>G
1 paper
NM_001080414.4
p.G1993A
c.5978G>C
1 paper
NM_001080414.4
p.L1992L
c.5976C>T
1 paper
NM_001080414.4
p.L1992P
c.5975T>C
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