Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.K205fs

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
3 papers
NM_032040.5
p.K205fs
c.613_614fs
Surrounding Variants
6 papers
NM_032040.5
p.G204insFs
c.612dupG
1 paper
NM_032040.5
p.K205fs
c.613_614fs
1 paper
NM_032040.5
p.L206L
c.616C>T
1 paper
NM_032040.5
p.Q200L
c.599A>T
1 paper
NM_032040.5
p.R195insFs
c.584_585insA
1 paper
NM_032040.5
p.A214A
c.642G>A
1 paper
NM_032040.5
p.T229I
c.686C>T
1 paper
NM_032040.5
p.A230insFs
c.690dupA
1 paper
NM_032040.5
p.R170H
c.509G>A
1 paper
NM_032040.5
p.A169G
c.506C>G
1 paper
NM_032040.5
p.P168L
c.503C>T
1 paper
NM_032040.5
p.D247N
c.739G>A
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