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.I124T

c.371T>C

Surrounding Variants

1 paper

NM_002811.5

p.I123T

c.368T>C

1 paper

NM_002811.5

p.K127*

c.379A>T

1 paper

NM_002811.5

p.K127R

c.380A>G

1 paper

NM_002811.5

p.D130G

c.389A>G

1 paper

NM_002811.5

p.L131L

c.391C>T

1 paper

NM_002811.5

p.P134L

c.401C>T

1 paper

NM_002811.5

p.A137T

c.409G>A

1 paper

NM_002811.5

p.V141G

c.422T>G

1 paper

NM_002811.5

p.S119S

c.357C>A

1 paper

NM_002811.5

p.N118T

c.353A>C

1 paper

NM_002811.5

p.P117L

c.350C>T

1 paper

NM_002811.5

p.K113R

c.338A>G