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

1–12 of 195 variants

4 papers

NM_002810.4

p.D11A

c.32A>C

4 papers

NM_002810.4

p.S266N

c.797G>A

3 papers

NM_002810.4

p.D11N

c.31G>A

3 papers

NM_002810.4

p.H94_L95Splc

c.282+111A>G

3 papers

NM_002810.4

p.E145K

c.433G>A

3 papers

NM_002810.4

p.L170P

c.509T>C

2 papers

NM_002810.4

p.M7K

c.20T>A

2 papers

NM_002810.4

p.V10A

c.29T>C

2 papers

NM_002810.4

p.R17Q

c.50G>A

2 papers

NM_002810.4

p.N18I

c.53A>T

2 papers

NM_002810.4

p.R42P

c.125G>C

2 papers

NM_002810.4

p.A55V

c.164C>T