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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002811.5

p.M1insFs

c.3dupG

1 paper

NM_002811.5

p.P2S

c.4C>T

1 paper

NM_002811.5

p.L4L

c.12G>A

5 papers

NM_002811.5

p.L4L

c.12G>C

1 paper

NM_002811.5

p.A5G

c.14C>G

1 paper

NM_002811.5

p.A5A

c.15A>T

1 paper

NM_002811.5

p.K8E

c.22A>G

1 paper

NM_002811.5

p.V9_V11insFs

c.26_33dup8

1 paper

NM_002811.5

p.V10V

c.30G>A

1 paper

NM_002811.5

p.P13A

c.37C>G

2 papers

NM_002811.5

p.P13S

c.37C>T

1 paper

NM_002811.5

p.P13R

c.38C>G