Varaico: Literature-Extracted Genetic Variants

Gene:PSMB5
Variant:p.L27M

PSMB5

75 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 56–238UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit beta 5

HGNC Alias Symbol

MB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002797.5
p.L27M
c.79C>A
Surrounding Variants
1 paper
NM_002797.5
p.L27V
c.79C>G
1 paper
NM_002797.5
p.L27R
c.80T>G
1 paper
NM_002797.5
p.L27P
c.80T>C
2 papers
NM_002797.5
p.L27Q
c.80T>A
1 paper
NM_002797.5
p.L27fs
c.79_80fs
1 paper
NM_002797.5
p.L27delFs
c.80delA
5 papers
NM_002797.5
p.R24C
c.70C>T
2 papers
NM_002797.5
p.G20E
c.59G>A
1 paper
NM_002797.5
p.D37_G38insCC
c.109_113ins6
1 paper
NM_002797.5
p.V13insFs
c.37_38insCC
1 paper
NM_002797.5
p.P12L
c.35C>T
1 paper
NM_002797.5
p.A43V
c.128C>T
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