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.E146_E147Splc

c.438+65T>C

Surrounding Variants

3 papers

NM_002810.4

p.E145K

c.433G>A

1 paper

NM_002810.4

p.E147K

c.439G>A

1 paper

NM_002810.4

p.V136I

c.406G>A

1 paper

NM_002810.4

p.K135R

c.404A>G

1 paper

NM_002810.4

p.N149K

c.447C>A

1 paper

NM_002810.4

p.E134*

c.400G>T

1 paper

NM_002810.4

p.E151Q

c.451G>C

1 paper

NM_002810.4

p.T154I

c.461C>T

1 paper

NM_002810.4

p.A155_N158delFs

c.464_474del11

1 paper

NM_002810.4

p.A155D

c.464C>A

1 paper

NM_002810.4

p.T159T

c.477G>A

1 paper

NM_002810.4

p.G162R

c.484G>C