Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.Q55*

PSMB8

178 papers

RefSeq Summary

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed...

Pfam Domains

Proteasomeaa 69–251UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit beta 8

HGNC Previous Symbol

LMP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_148919.4
p.Q55*
c.163C>T
Surrounding Variants
1 paper
NM_148919.4
p.F53L
c.159C>G
1 paper
NM_148919.4
p.F53L
c.159C>A
1 paper
NM_148919.4
p.F53L
c.157T>C
1 paper
NM_148919.4
p.E68D
c.204G>T
1 paper
NM_148919.4
p.E68D
c.204G>C
5 papers
NM_148919.4
p.T74S
c.220A>T
1 paper
NM_148919.4
p.T73delFs
c.218delG
1 paper
NM_148919.4
p.T74I
c.221C>T
5 papers
NM_148919.4
p.T74S
c.221C>G
1 paper
NM_148919.4
p.T74delins
c.220_222delinsTCA
49 papers
NM_148919.4
p.T75M
c.224C>T
NM_004159.5
p.T71M
c.212C>T
1 paper
NM_148919.4
p.A77S
c.229G>T
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