Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.R122L

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.R122L
c.365G>T
Surrounding Variants
1 paper
NM_032040.5
p.R122Q
c.365G>A
1 paper
NM_032040.5
p.M130I
c.390G>T
1 paper
NM_032040.5
p.M130I
c.390G>C
1 paper
NM_032040.5
p.M130I
c.390G>A
1 paper
NM_032040.5
p.T112S
c.334A>T
1 paper
NM_032040.5
p.S108_E111delFs
c.324_331del8
1 paper
NM_032040.5
p.E111Q
c.331G>C
1 paper
NM_032040.5
p.L135R
c.404T>G
1 paper
NM_032040.5
p.D109N
c.325G>A
1 paper
NM_032040.5
p.D143insFs
c.427dupG
1 paper
NM_032040.5
p.S142_D143delFs
c.424_427del4
1 paper
NM_032040.5
p.E151insFs
c.451dupG
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