Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.R1701Q

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.R1701Q
c.5102G>A
Surrounding Variants
1 paper
NM_001080414.4
p.R1701L
c.5102G>T
1 paper
NM_001080414.4
p.R1701*
c.5101C>T
2 papers
NM_001080414.4
p.S1697N
c.5090G>A
1 paper
NM_001080414.4
p.L1696P
c.5087T>C
1 paper
NM_001080414.4
p.D1694N
c.5080G>A
2 papers
NM_001080414.4
p.I1709N
c.5126T>A
1 paper
NM_001080414.4
p.S1690C
c.5068A>T
1 paper
NM_001080414.4
p.D1687N
c.5059G>A
1 paper
NM_001080414.4
p.M1724K
c.5171T>A
1 paper
NM_001080414.4
p.T1726I
c.5177C>T
1 paper
NM_001080414.4
p.V1733I
c.5197G>A
1 paper
NM_001080414.4
p.S1740L
c.5219C>T
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