Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.R264Q

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.R264Q
c.791G>A
Surrounding Variants
2 papers
NM_001080414.4
p.V254I
c.760G>A
1 paper
NM_001080414.4
p.K249_Q250insFs
c.746_750dup5
1 paper
NM_001080414.4
p.P228T
c.682C>A
1 paper
NM_001080414.4
p.A222G
c.665C>G
1 paper
NM_001080414.4
p.L220P
c.659T>C
1 paper
NM_001080414.4
p.Q215H
c.645G>T
1 paper
NM_001080414.4
p.E208_L209Splc
c.624+1G>C
1 paper
NM_001080414.4
p.E208*
c.622G>T
1 paper
NM_001080414.4
p.E208K
c.622G>A
1 paper
NM_001080414.4
p.D204G
c.611A>G
2 papers
NM_001080414.4
p.R203W
c.607C>T
1 paper
NM_001080414.4
p.D201N
c.601G>A
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