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

1–12 of 46 variants

2 papers

NM_002786.4

p.G37V

c.110G>T

2 papers

NM_002786.4

p.D228_V229del1

c.683_685delCAT

1 paper

NM_002786.4

p.M1I

c.3G>T

1 paper

NM_002786.4

p.F2V

c.4T>G

1 paper

NM_002786.4

p.S14G

c.40A>G

1 paper

NM_002786.4

p.Q16_G17Splc

c.49-6C>T

1 paper

NM_002786.4

p.E27K

c.79G>A

1 paper

NM_002786.4

p.A28A

c.84T>A

1 paper

NM_002786.4

p.Q31*

c.91C>T

1 paper

NM_002786.4

p.G32C

c.94G>T

1 paper

NM_002786.4

p.A34V

c.101C>T

1 paper

NM_002786.4

p.S40S

c.120A>T