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

2 papers

NM_002811.5

p.L17P

c.50T>C

Surrounding Variants

1 paper

NM_002811.5

p.S18C

c.52A>T

1 paper

NM_002811.5

p.L16P

c.47T>C

1 paper

NM_002811.5

p.L14Q

c.41T>A

1 paper

NM_002811.5

p.P13R

c.38C>G

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.F23L

c.67T>C

1 paper

NM_002811.5

p.F23L

c.69C>A

1 paper

NM_002811.5

p.F23L

c.69C>G

1 paper

NM_002811.5

p.N24H

c.70A>C

1 paper

NM_002811.5

p.N24D

c.70A>G

1 paper

NM_002811.5

p.V10V

c.30G>A