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.D105_I106delFs

c.315_318del4

Surrounding Variants

1 paper

NM_002811.5

p.D105N

c.313G>A

1 paper

NM_002811.5

p.I106L

c.316A>C

1 paper

NM_002811.5

p.L101R

c.302T>G

1 paper

NM_002811.5

p.E110K

c.328G>A

1 paper

NM_002811.5

p.P99T

c.295C>A

1 paper

NM_002811.5

p.G98D

c.293G>A

1 paper

NM_002811.5

p.M112K

c.335T>A

1 paper

NM_002811.5

p.K113R

c.338A>G

1 paper

NM_002811.5

p.K113I

c.338A>T

1 paper

NM_002811.5

p.H96H

c.288C>T

1 paper

NM_002811.5

p.G93G

c.279C>T

1 paper

NM_002811.5

p.P117L

c.350C>T