Varaico: Literature-Extracted Genetic Variants

PSMC4

56 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

Prot_ATP_ID_OB_Caa 89–144UCSCProteasomal ATPase OB C-terminal domain

AAAaa 202–335UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 357–401UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 4

HGNC Previous Symbol

MIP224

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006503.4

p.A320G

c.959C>G

Surrounding Variants

1 paper

NM_006503.4

p.P319L

c.956C>T

3 papers

NM_006503.4

p.R323W

c.967C>T

1 paper

NM_006503.4

p.P324S

c.970C>T

1 paper

NM_006503.4

p.R329C

c.985C>T

1 paper

NM_006503.4

p.R329H

c.986G>A

1 paper

NM_006503.4

p.R338H

c.1013G>A

1 paper

NM_006503.4

p.D297N

c.889G>A

1 paper

NM_006503.4

p.D297Y

c.889G>T

1 paper

NM_006503.4

p.L292L

c.874C>T

2 papers

NM_006503.4

p.D276N

c.826G>A

2 papers

NM_006503.4

p.A271T

c.811G>A

1 paper

NM_006503.4

p.I270I

c.810C>T