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

3 papers

NM_002810.4

p.L170P

c.509T>C

Surrounding Variants

1 paper

NM_002810.4

p.P177H

c.530C>A

1 paper

NM_002810.4

p.K163_D164insC

c.487_491ins3

1 paper

NM_002810.4

p.G162R

c.484G>C

1 paper

NM_002810.4

p.A180insFs

c.538_539ins7

2 papers

NM_002810.4

p.A180G

c.539C>G

1 paper

NM_002810.4

p.D181del1

c.541_543delGAT

1 paper

NM_002810.4

p.T159T

c.477G>A

1 paper

NM_002810.4

p.A182T

c.544G>A

1 paper

NM_002810.4

p.A155D

c.464C>A

1 paper

NM_002810.4

p.A155_N158delFs

c.464_474del11

1 paper

NM_002810.4

p.T154I

c.461C>T

1 paper

NM_002810.4

p.I188L

c.562A>C