Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.G400delFs

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.G400delFs
c.1200delC
Surrounding Variants
1 paper
NM_032040.5
p.D398V
c.1193A>T
1 paper
NM_032040.5
p.D398N
c.1192G>A
1 paper
NM_032040.5
p.A397_D398insFs
c.1191_1192insG
1 paper
NM_032040.5
p.P396P
c.1188A>C
2 papers
NM_032040.5
p.N406_Q407delFs
c.1218_1221del4
1 paper
NM_032040.5
p.A393A
c.1179G>A
1 paper
NM_032040.5
p.N390insFs
c.1168_1169insC
1 paper
NM_032040.5
p.H413Y
c.1237C>T
1 paper
NM_032040.5
p.Q407_H413delFs
c.1219_1238del20
1 paper
NM_032040.5
p.E386V
c.1157A>T
1 paper
NM_032040.5
p.H383Q
c.1149C>G
1 paper
NM_032040.5
p.H383Q
c.1149C>A
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