Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.Q436delFs

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.Q436delFs
c.1306delG
Surrounding Variants
1 paper
NM_032040.5
p.A438V
c.1313C>T
1 paper
NM_032040.5
p.R433Q
c.1298G>A
1 paper
NM_032040.5
p.H442D
c.1324C>G
1 paper
NM_032040.5
p.R429K
c.1286G>A
1 paper
NM_032040.5
p.G424_N427del4
c.1270_1280del12
1 paper
NM_032040.5
p.D426N
c.1276G>A
1 paper
NM_032040.5
p.A425insFs
c.1273dupG
1 paper
NM_032040.5
p.A425insFs
c.1273_1274insA
1 paper
NM_032040.5
p.V422V
c.1266C>G
1 paper
NM_032040.5
p.Q452*
c.1354C>T
1 paper
NM_032040.5
p.Q407_H413delFs
c.1219_1238del20
1 paper
NM_032040.5
p.H413Y
c.1237C>T
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