Varaico: Literature-Extracted Genetic Variants

PSMD4

487 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

VWA_2aa 6–116UCSCvon Willebrand factor type A domain

UIMaa 211–227UCSCUbiquitin interaction motif

UIMaa 282–298UCSCUbiquitin interaction motif

Gene Aliases

HGNC Name

proteasome 26S subunit ubiquitin receptor, non-ATPase 4

HGNC Alias Symbols

S5A; AF-1; AF; Rpn10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002810.4

p.E299Splc

c.896-10T>C

Surrounding Variants

1 paper

NM_002810.4

p.E299G

c.896A>G

1 paper

NM_002810.4

p.Q302H

c.906G>T

1 paper

NM_002810.4

p.A303P

c.907G>C

1 paper

NM_002810.4

p.A303S

c.907G>T

1 paper

NM_002810.4

p.E304K

c.910G>A

1 paper

NM_002810.4

p.S305A

c.913T>G

1 paper

NM_002810.4

p.D307N

c.919G>A

2 papers

NM_002810.4

p.A310T

c.928G>A

1 paper

NM_002810.4

p.S311N

c.932G>A

1 paper

NM_002810.4

p.S312S

c.936A>G

1 paper

NM_002810.4

p.A313T

c.937G>A

1 paper

NM_002810.4

p.D315Y

c.943G>T