Varaico: Literature-Extracted Genetic Variants

PSMD7

387 papers

RefSeq Summary

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identic...

Pfam Domains

JABaa 4–118UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

MitMem_regaa 166–277UCSCMaintenance of mitochondrial structure and function

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 7

HGNC Alias Symbols

S12; P40; MOV34; Rpn8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002811.5

p.R209W

c.625A>T

Surrounding Variants

1 paper

NM_002811.5

p.A216T

c.646G>A

1 paper

NM_002811.5

p.A216delFs

c.648delC

1 paper

NM_002811.5

p.G218S

c.652G>A

1 paper

NM_002811.5

p.K199_L212del14

c.595_635del42

1 paper

NM_002811.5

p.P221delFs

c.663delC

1 paper

NM_002811.5

p.P221L

c.662C>T

1 paper

NM_002811.5

p.H196Y

c.586C>T

1 paper

NM_002811.5

p.Q194insFs

c.580_581insT

1 paper

NM_002811.5

p.T192P

c.574A>C

1 paper

NM_002811.5

p.I226I

c.678C>A

1 paper

NM_002811.5

p.Y228Y

c.684C>T

1 paper

NM_002811.5

p.Q229_L230ins10

c.685_689ins30