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.D255Splc

c.764-1G>A

Surrounding Variants

1 paper

NM_002810.4

p.D257_L260insFs

c.770_780dup11

1 paper

NM_002810.4

p.L260Q

c.779T>A

4 papers

NM_002810.4

p.S266N

c.797G>A

2 papers

NM_002810.4

p.Q268*

c.802C>T

1 paper

NM_002810.4

p.E269G

c.806A>G

2 papers

NM_002810.4

p.R272H

c.815G>A

1 paper

NM_002810.4

p.P276A

c.826C>G

1 paper

NM_002810.4

p.D277N

c.829G>A

1 paper

NM_002810.4

p.E283A

c.848A>C

1 paper

NM_002810.4

p.E284K

c.850G>A

1 paper

NM_002810.4

p.E285K

c.853G>A

1 paper

NM_002810.4

p.A288D

c.863C>A