Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.K752R

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
2 papers
NM_001080414.4
p.K752R
c.2255A>G
Surrounding Variants
1 paper
NM_001080414.4
p.Q783K
c.2347C>A
1 paper
NM_001080414.4
p.L785S
c.2354T>C
1 paper
NM_001080414.4
p.S787G
c.2359A>G
1 paper
NM_001080414.4
p.R711M
c.2132G>T
1 paper
NM_001080414.4
p.R710H
c.2129G>A
1 paper
NM_001080414.4
p.R800Q
c.2399G>A
1 paper
NM_001080414.4
p.D703Y
c.2107G>T
1 paper
NM_001080414.4
p.D802E
c.2406C>G
1 paper
NM_001080414.4
p.D802E
c.2406C>A
1 paper
NM_001080414.4
p.K700Q
c.2098A>C
1 paper
NM_001080414.4
p.D698E
c.2094C>G
1 paper
NM_001080414.4
p.D698E
c.2094C>A
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