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.H94_L95Splc

c.282+111A>G

Surrounding Variants

1 paper

NM_002810.4

p.V92V

c.276G>C

1 paper

NM_002810.4

p.V92G

c.275T>G

1 paper

NM_002810.4

p.R91P

c.272G>C

1 paper

NM_002810.4

p.G89S

c.265G>A

1 paper

NM_002810.4

p.C87C

c.261C>T

1 paper

NM_002810.4

p.C87G

c.259T>G

1 paper

NM_002810.4

p.G82A

c.245G>C

2 papers

NM_002810.4

p.Q79L

c.236A>T

1 paper

NM_002810.4

p.H76delFs

c.227delA

1 paper

NM_002810.4

p.D67A

c.200A>C

1 paper

NM_002810.4

p.D67N

c.199G>A

1 paper

NM_002810.4

p.D67_T68insFs

c.201_202insAC