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.E302K

c.904G>A

Surrounding Variants

1 paper

NM_002811.5

p.E302Q

c.904G>C

1 paper

NM_002811.5

p.D303E

c.909C>A

1 paper

NM_002811.5

p.D303E

c.909C>G

1 paper

NM_002811.5

p.D307D

c.921T>C

1 paper

NM_002811.5

p.S296fs

c.886_887fs

1 paper

NM_002811.5

p.S296delFs

c.886_887delAG

1 paper

NM_002811.5

p.E294K

c.880G>A

2 papers

NM_002811.5

p.E292G

c.875A>G

1 paper

NM_002811.5

p.Q291*

c.871C>T

1 paper

NM_002811.5

p.V315_E318del4

c.943_953del12

1 paper

NM_002811.5

p.K317R

c.950A>G

1 paper

NM_002811.5

p.E286A

c.857A>C