Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.Y10fs

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
2 papers
NM_032040.5
p.Y10fs
c.28_29fs
Surrounding Variants
2 papers
NM_032040.5
p.Y10_L12delFs
c.29_35del7
1 paper
NM_032040.5
p.G5R
c.13G>C
1 paper
NM_032040.5
p.Y10_R15delFs
c.29_45del17
1 paper
NM_032040.5
p.L2L
c.6G>T
1 paper
NM_032040.5
p.M1delins
c.1_2delinsTC
1 paper
NM_032040.5
p.A20D
c.59C>A
3 papers
NM_032040.5
p.K29*
c.85A>T
5 papers
NM_032040.5
p.S28insFs
c.84dupT
1 paper
NM_032040.5
p.P30R
c.89C>G
1 paper
NM_032040.5
p.P30H
c.89C>A
1 paper
NM_032040.5
p.A31P
c.91G>C
1 paper
NM_032040.5
p.A31T
c.91G>A
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