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.S51A

c.151T>G

Surrounding Variants

1 paper

NM_002811.5

p.V50_S51insFs

c.150_151ins4

1 paper

NM_002811.5

p.D49Y

c.145G>T

1 paper

NM_002811.5

p.S53S

c.159T>C

1 paper

NM_002811.5

p.A55G

c.164C>G

1 paper

NM_002811.5

p.V56Splc

c.166+1G>A

1 paper

NM_002811.5

p.Q44R

c.131A>G

1 paper

NM_002811.5

p.Q44*

c.130C>T

1 paper

NM_002811.5

p.W43insFs

c.127_128ins4

1 paper

NM_002811.5

p.V36V

c.108T>C

1 paper

NM_002811.5

p.V35A

c.104T>C

1 paper

NM_002811.5

p.R34H

c.101G>A

2 papers

NM_002811.5

p.R34C

c.100C>T