Varaico: Literature-Extracted Genetic Variants

PSMB7

45 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 40–221UCSCProteasome subunit

Pr_beta_Caa 235–271UCSCProteasome beta subunits C terminal

Gene Aliases

HGNC Name

proteasome 20S subunit beta 7

HGNC Previous Names

proteasome (prosome, macropain) subunit, beta type, 7; proteasome subunit beta 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002799.4

p.S75L

c.224C>T

Surrounding Variants

1 paper

NM_002799.4

p.C74Y

c.221G>A

1 paper

NM_002799.4

p.D71H

c.211G>C

1 paper

NM_002799.4

p.D71N

c.211G>A

1 paper

NM_002799.4

p.A70V

c.209C>T

1 paper

NM_002799.4

p.M67V

c.199A>G

1 paper

NM_002799.4

p.R62G

c.184A>G

1 paper

NM_002799.4

p.D60N

c.178G>A

1 paper

NM_002799.4

p.V56I

c.166G>A

2 papers

NM_002799.4

p.V49G

c.146T>G

1 paper

NM_002799.4

p.T44A

c.130A>G

12 papers

NM_002799.4

p.V39A

c.116T>C

1 paper

NM_002799.4

p.R32W

c.94A>T