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

2 papers

NM_002810.4

p.R42P

c.125G>C

Surrounding Variants

1 paper

NM_002810.4

p.R42G

c.124C>G

1 paper

NM_002810.4

p.T41A

c.121A>G

1 paper

NM_002810.4

p.K40R

c.119A>G

1 paper

NM_002810.4

p.K40E

c.118A>G

1 paper

NM_002810.4

p.S39*

c.116C>A

1 paper

NM_002810.4

p.K40insFs

c.119dupA

1 paper

NM_002810.4

p.I35M

c.105A>G

1 paper

NM_002810.4

p.I35K

c.104T>A

1 paper

NM_002810.4

p.V33insFs

c.98_99insA

1 paper

NM_002810.4

p.A32V

c.95C>T

1 paper

NM_002810.4

p.L54P

c.161T>C

1 paper

NM_002810.4

p.A55insFs

c.163_164insC