Varaico: Literature-Extracted Genetic Variants

Gene:PSMB1
Variant:p.Y133F

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.Y133F
c.398A>T
Surrounding Variants
1 paper
NM_002793.4
p.Y132*
c.396C>A
1 paper
NM_002793.4
p.Y135C
c.404A>G
1 paper
NM_002793.4
p.Y135*
c.405C>A
1 paper
NM_002793.4
p.R128H
c.383G>A
1 paper
NM_002793.4
p.A117T
c.349G>A
1 paper
NM_002793.4
p.G114E
c.341G>A
3 papers
NM_002793.4
p.Y103H
c.307T>C
1 paper
NM_002793.4
p.I96I
c.288T>A
1 paper
NM_002793.4
p.G84S
c.250G>A
1 paper
NM_002793.4
p.K77E
c.229A>G
1 paper
NM_002793.4
p.T75I
c.224C>T
1 paper
NM_002793.4
p.P69P
c.207C>A
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