Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.D1441V

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.D1441V
c.4322A>T
Surrounding Variants
1 paper
NM_001080414.4
p.P1442P
c.4326C>T
5 papers
NM_001080414.4
p.A1443T
c.4327G>A
1 paper
NM_001080414.4
p.P1445L
c.4334C>T
1 paper
NM_001080414.4
p.A1446T
c.4336G>A
1 paper
NM_001080414.4
p.A1446E
c.4337C>A
1 paper
NM_001080414.4
p.P1434S
c.4300C>T
1 paper
NM_001080414.4
p.P1450L
c.4349C>T
1 paper
NM_001080414.4
p.E1456K
c.4366G>A
1 paper
NM_001080414.4
p.D1459N
c.4375G>A
2 papers
NM_001080414.4
p.S1422L
c.4265C>T
1 paper
NM_001080414.4
p.A1462S
c.4384G>T
2 papers
NM_001080414.4
p.A1462T
c.4384G>A
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