Varaico: Literature-Extracted Genetic Variants

PSMA4

30 papers

RefSeq Summary

This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP...

Pfam Domains

Proteasome_A_Naa 5–27UCSCProteasome subunit A N-terminal signature

Proteasomeaa 28–216UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit alpha 4

HGNC Alias Symbols

HC9; HsT17706

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002789.6

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002789.6

p.I11V

c.31A>G

1 paper

NM_002789.6

p.R17H

c.50G>A

2 papers

NM_002789.6

p.Y19S

c.56A>C

1 paper

NM_002789.6

p.A24T

c.70G>A

3 papers

NM_002789.6

p.D57A

c.170A>C

1 paper

NM_002789.6

p.E63V

c.188A>T

2 papers

NM_002789.6

p.E70K

c.208G>A

1 paper

NM_002789.6

p.R91W

c.271A>T

1 paper

NM_002789.6

p.I93T

c.278T>C

1 paper

NM_002789.6

p.T122K

c.365C>A

1 paper

NM_002789.6

p.Q149H

c.447G>C

1 paper

NM_002789.6

p.Q149H

c.447G>T