Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8

CCDC8

172 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth thro...

Gene Aliases

HGNC Name

coiled-coil domain containing 8 subunit of 3M complex

HGNC Alias Symbols

DKFZp564K0322; 3M3; PPP1R20; p90

Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
9 papers
NM_032040.5
p.R304W
c.910A>T
6 papers
NM_032040.5
p.G204insFs
c.612dupG
5 papers
NM_032040.5
p.S28insFs
c.84dupT
3 papers
NM_032040.5
p.K29*
c.85A>T
3 papers
NM_032040.5
p.K205fs
c.613_614fs
3 papers
NM_032040.5
p.N318K
c.954T>G
3 papers
NM_032040.5
p.N318K
c.954T>A
3 papers
NM_032040.5
p.E535D
c.1605A>T
3 papers
NM_032040.5
p.E535D
c.1605A>C
2 papers
NM_032040.5
p.Y10fs
c.28_29fs
2 papers
NM_032040.5
p.Y10_L12delFs
c.29_35del7
2 papers
NM_032040.5
p.K29_A35del7
c.85_104del21
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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."