Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.G1748R

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.G1748R
c.5242G>C
Surrounding Variants
1 paper
NM_001080414.4
p.G1748R
c.5242G>A
1 paper
NM_001080414.4
p.P1744L
c.5231C>T
2 papers
NM_001080414.4
p.F1755fs
c.5263_5264fs
1 paper
NM_001080414.4
p.S1740L
c.5219C>T
1 paper
NM_001080414.4
p.F1755_R1756delFs
c.5265_5266delTG
1 paper
NM_001080414.4
p.V1733I
c.5197G>A
2 papers
NM_001080414.4
p.V1766M
c.5296G>A
1 paper
NM_001080414.4
p.P1768R
c.5303C>G
1 paper
NM_001080414.4
p.T1726I
c.5177C>T
1 paper
NM_001080414.4
p.M1724K
c.5171T>A
1 paper
NM_001080414.4
p.R1783Q
c.5348G>A
2 papers
NM_001080414.4
p.I1709N
c.5126T>A
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