Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.R1299C

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
10 papers
NM_001080414.4
p.R1299C
c.3895C>T
Surrounding Variants
1 paper
NM_001080414.4
p.A1298V
c.3893C>T
1 paper
NM_001080414.4
p.E1305D
c.3915G>T
1 paper
NM_001080414.4
p.E1305D
c.3915G>C
1 paper
NM_001080414.4
p.A1289V
c.3866C>T
1 paper
NM_001080414.4
p.A1289T
c.3865G>A
1 paper
NM_001080414.4
p.E1322G
c.3965A>G
1 paper
NM_001080414.4
p.E1271D
c.3813G>T
1 paper
NM_001080414.4
p.E1271D
c.3813G>C
1 paper
NM_001080414.4
p.G1270E
c.3809G>A
2 papers
NM_001080414.4
p.K1269_G1270Fs
c.3807_3809delinsACCTFs
2 papers
NM_001080414.4
p.G1270fs
c.3808_3809fs
1 paper
NM_001080414.4
p.E1257K
c.3769G>A
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