Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.A329fs

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.A329fs
c.985_986fs
Surrounding Variants
1 paper
NM_032040.5
p.E330K
c.988G>A
1 paper
NM_032040.5
p.A329insFs
c.985dupG
1 paper
NM_032040.5
p.G328E
c.983G>A
1 paper
NM_032040.5
p.A323_A331Fs
c.967_993delinsCAGCTGGFs
1 paper
NM_032040.5
p.Q327H
c.981G>T
1 paper
NM_032040.5
p.Q327H
c.981G>C
1 paper
NM_032040.5
p.P324_A331del8
c.970_992del24
1 paper
NM_032040.5
p.Q327E
c.979C>G
1 paper
NM_032040.5
p.D326E
c.978C>G
1 paper
NM_032040.5
p.D326E
c.978C>A
1 paper
NM_032040.5
p.Q335R
c.1004A>G
2 papers
NM_032040.5
p.A321delFs
c.963delT
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