Varaico: Literature-Extracted Genetic Variants

Gene:COMMD8
Variant:p.R97K

COMMD8

13 papers

RefSeq Summary

The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq,...

Pfam Domains

COMMD8_HNaa 12–101UCSCCOMMD8, helical N-terminal domain
COMM_domainaa 113–175UCSCCOMM domain

Gene Aliases

HGNC Name

COMM domain containing 8

HGNC Alias Symbol

FLJ20502

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017845.5
p.R97K
c.290G>A
Surrounding Variants
1 paper
NM_017845.5
p.V94M
c.280G>A
1 paper
NM_017845.5
p.Q116L
c.347A>T
1 paper
NM_017845.5
p.W122G
c.364T>G
1 paper
NM_017845.5
p.V124G
c.371T>G
1 paper
NM_017845.5
p.K132*
c.394A>T
1 paper
NM_017845.5
p.R137*
c.409C>T
1 paper
NM_017845.5
p.D72N
c.214G>A
1 paper
NM_017845.5
p.V66F
c.196G>T
1 paper
NM_017845.5
p.V66L
c.196G>C
1 paper
NM_017845.5
p.V66I
c.196G>A
2 papers
NM_017845.5
p.V147V
c.441A>T
1 paper
NM_017845.5
p.K63K
c.189A>G
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