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.G198D

c.593G>A

Surrounding Variants

1 paper

NM_002810.4

p.L199_G200insFs

c.597_598insG

1 paper

NM_002810.4

p.M196I

c.588G>A

1 paper

NM_002810.4

p.M196I

c.588G>C

1 paper

NM_002810.4

p.M196I

c.588G>T

1 paper

NM_002810.4

p.G200D

c.599G>A

1 paper

NM_002810.4

p.G200A

c.599G>C

1 paper

NM_002810.4

p.A195A

c.585C>T

1 paper

NM_002810.4

p.A201_S202insAC

c.601_605ins6

1 paper

NM_002810.4

p.A195insFs

c.584_585insA

1 paper

NM_002810.4

p.E205insFs

c.614dupA

1 paper

NM_002810.4

p.G191D

c.572G>A

1 paper

NM_002810.4

p.G207G

c.621A>C