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.E234_G235del1

c.701_703delCTT

Surrounding Variants

1 paper

NM_002786.4

p.G235D

c.704G>A

1 paper

NM_002786.4

p.E234_G235del2

c.700_704del6

1 paper

NM_002786.4

p.F232Y

c.695T>A

1 paper

NM_002786.4

p.P231S

c.691C>T

1 paper

NM_002786.4

p.D228_V229del2

c.682_686del6

2 papers

NM_002786.4

p.D228_V229del1

c.683_685delCAT

1 paper

NM_002786.4

p.K217T

c.650A>C

1 paper

NM_002786.4

p.G213E

c.638G>A

1 paper

NM_002786.4

p.P246P

c.738T>C

1 paper

NM_002786.4

p.*264*

c.792A>G

1 paper

NM_002786.4

p.L205L

c.613C>T

1 paper

NM_002786.4

p.A201T

c.601G>A