Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.P1851insFs

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.P1851insFs
c.5553dupC
Surrounding Variants
1 paper
NM_001080414.4
p.S1852fs
c.5554_5555fs
2 papers
NM_001080414.4
p.G1837D
c.5510G>A
1 paper
NM_001080414.4
p.S1878I
c.5633G>T
3 papers
NM_001080414.4
p.R1879Q
c.5636G>A
1 paper
NM_001080414.4
p.D1882H
c.5644G>C
1 paper
NM_001080414.4
p.P1891Q
c.5672C>A
1 paper
NM_001080414.4
p.K1892E
c.5674A>G
1 paper
NM_001080414.4
p.S1806G
c.5416A>G
2 papers
NM_001080414.4
p.P1898R
c.5693C>G
1 paper
NM_001080414.4
p.R1797H
c.5390G>A
1 paper
NM_001080414.4
p.P1794R
c.5381C>G
1 paper
NM_001080414.4
p.S1791_A1793del0
c.5373_5378del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."