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.V2V

c.6G>C

Surrounding Variants

1 paper

NM_002810.4

p.V2V

c.6G>A

1 paper

NM_002810.4

p.V2V

c.6G>T

1 paper

NM_002810.4

p.L3delFs

c.8delT

1 paper

NM_002810.4

p.V2A

c.5T>C

1 paper

NM_002810.4

p.E4insFs

c.10_11insT

1 paper

NM_002810.4

p.M1T

c.2T>C

1 paper

NM_002810.4

p.M1R

c.2T>G

1 paper

NM_002810.4

p.M1_E4delFs

c.3_12del10

1 paper

NM_002810.4

p.E4A

c.11A>C

1 paper

NM_002810.4

p.E4G

c.11A>G

1 paper

NM_002810.4

p.S5N

c.14G>A

1 paper

NM_002810.4

p.S5R

c.15C>A