Varaico: Literature-Extracted Genetic Variants

PSMA1

64 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

Proteasome_A_Naa 6–28UCSCProteasome subunit A N-terminal signature

Proteasomeaa 29–215UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit alpha 1

HGNC Alias Symbols

HC2; NU; PROS30; MGC14542; MGC14575; MGC14751; MGC1667; MGC21459; MGC22853; MGC23915

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002786.4

p.L205L

c.613C>T

Surrounding Variants

1 paper

NM_002786.4

p.A201T

c.601G>A

1 paper

NM_002786.4

p.L199F

c.595C>T

1 paper

NM_002786.4

p.A194T

c.580G>A

1 paper

NM_002786.4

p.L192L

c.576G>A

1 paper

NM_002786.4

p.L187V

c.559C>G

1 paper

NM_002786.4

p.E178K

c.532G>A

1 paper

NM_002786.4

p.H175Y

c.523C>T

1 paper

NM_002786.4

p.R169C

c.505C>T

1 paper

NM_002786.4

p.R164C

c.490C>T

1 paper

NM_002786.4

p.C156_R157insG

c.466_470ins3

1 paper

NM_002786.4

p.D155H

c.463G>C

1 paper

NM_002786.4

p.P142L

c.425C>T