Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.S273A

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.S273A
c.817T>G
Surrounding Variants
2 papers
NM_032040.5
p.K268_I269Fs
c.803_807delinsTFs
2 papers
NM_032040.5
p.K268fs
c.802_803fs
1 paper
NM_032040.5
p.K279M
c.836A>T
1 paper
NM_032040.5
p.R264*
c.790C>T
1 paper
NM_032040.5
p.G288E
c.863G>A
1 paper
NM_032040.5
p.A252V
c.755C>T
1 paper
NM_032040.5
p.D247N
c.739G>A
1 paper
NM_032040.5
p.A300insFs
c.899dupC
9 papers
NM_032040.5
p.R304W
c.910A>T
1 paper
NM_032040.5
p.D310N
c.928G>A
1 paper
NM_032040.5
p.A230insFs
c.690dupA
1 paper
NM_032040.5
p.A316E
c.947C>A
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