Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.K71Q

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
Selected Variant
2 papers
NM_032040.5
p.K71Q
c.211A>C
Surrounding Variants
1 paper
NM_032040.5
p.K72_P73insFs
c.216_217insA
1 paper
NM_032040.5
p.Q68P
c.203A>C
1 paper
NM_032040.5
p.H65P
c.194A>C
1 paper
NM_032040.5
p.R81K
c.242G>A
1 paper
NM_032040.5
p.P89L
c.266C>T
1 paper
NM_032040.5
p.R50H
c.149G>A
1 paper
NM_032040.5
p.E39G
c.116A>G
2 papers
NM_032040.5
p.K29_A35del7
c.85_104del21
1 paper
NM_032040.5
p.D109N
c.325G>A
1 paper
NM_032040.5
p.E111Q
c.331G>C
1 paper
NM_032040.5
p.A31P
c.91G>C
1 paper
NM_032040.5
p.A31T
c.91G>A
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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."