Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.P168L

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
1 paper
NM_032040.5
p.P168L
c.503C>T
Surrounding Variants
1 paper
NM_032040.5
p.A169G
c.506C>G
1 paper
NM_032040.5
p.R170H
c.509G>A
1 paper
NM_032040.5
p.R158W
c.472C>T
1 paper
NM_032040.5
p.L157F
c.469C>T
1 paper
NM_032040.5
p.V153insFs
c.458dupT
1 paper
NM_032040.5
p.V153Fs
c.457_458delinsTFs
1 paper
NM_032040.5
p.E151E
c.453A>G
1 paper
NM_032040.5
p.E151insFs
c.451dupG
1 paper
NM_032040.5
p.S142_D143delFs
c.424_427del4
1 paper
NM_032040.5
p.D143insFs
c.427dupG
1 paper
NM_032040.5
p.R195insFs
c.584_585insA
1 paper
NM_032040.5
p.Q200L
c.599A>T
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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."