Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.E665K

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
4 papers
NM_001080414.4
p.E665K
c.1993G>A
Surrounding Variants
1 paper
NM_001080414.4
p.E662K
c.1984G>A
1 paper
NM_001080414.4
p.L640delFs
c.1918_1919delAG
1 paper
NM_001080414.4
p.S689Y
c.2066C>A
1 paper
NM_001080414.4
p.R639*
c.1915C>T
1 paper
NM_001080414.4
p.R697P
c.2090G>C
1 paper
NM_001080414.4
p.D698E
c.2094C>G
1 paper
NM_001080414.4
p.D698E
c.2094C>A
1 paper
NM_001080414.4
p.K700Q
c.2098A>C
6 papers
NM_001080414.4
p.R629Q
c.1886G>A
1 paper
NM_001080414.4
p.R629W
c.1885C>T
1 paper
NM_001080414.4
p.D703Y
c.2107G>T
1 paper
NM_001080414.4
p.K626N
c.1878G>T
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