Varaico: Literature-Extracted Genetic Variants

Gene:PSMB1
Variant:p.T217A

PSMB1

68 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 34–226UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit beta 1

HGNC Alias Symbols

PMSB1; HC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002793.4
p.T217A
c.649A>G
Surrounding Variants
2 papers
NM_002793.4
p.R213T
c.638G>C
1 paper
NM_002793.4
p.R222W
c.664C>T
1 paper
NM_002793.4
p.I208N
c.623T>A
1 paper
NM_002793.4
p.M200I
c.600G>T
1 paper
NM_002793.4
p.M200I
c.600G>C
1 paper
NM_002793.4
p.M200I
c.600G>A
2 papers
NM_002793.4
p.Q174E
c.520C>G
1 paper
NM_002793.4
p.A171S
c.511G>T
1 paper
NM_002793.4
p.A165D
c.494C>A
1 paper
NM_002793.4
p.Y135*
c.405C>A
1 paper
NM_002793.4
p.Y135C
c.404A>G
1 paper
NM_002793.4
p.Y133F
c.398A>T
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