Varaico: Literature-Extracted Genetic Variants

Gene:CCDC8
Variant:p.T504A

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.T504A
c.1510A>G
Surrounding Variants
1 paper
NM_032040.5
p.P503A
c.1507C>G
1 paper
NM_032040.5
p.K507N
c.1521G>T
1 paper
NM_032040.5
p.K507N
c.1521G>C
1 paper
NM_032040.5
p.H498Y
c.1492C>T
1 paper
NM_032040.5
p.T482T
c.1446C>T
1 paper
NM_032040.5
p.E530A
c.1589A>C
1 paper
NM_032040.5
p.V475F
c.1423G>T
1 paper
NM_032040.5
p.Q474R
c.1421A>G
1 paper
NM_032040.5
p.R472L
c.1415G>T
3 papers
NM_032040.5
p.E535D
c.1605A>T
3 papers
NM_032040.5
p.E535D
c.1605A>C
1 paper
NM_032040.5
p.R472W
c.1414C>T
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