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

2 papers

NM_006503.4

p.V162A

c.485T>C

Surrounding Variants

1 paper

NM_006503.4

p.A165A

c.495G>A

2 papers

NM_006503.4

p.R178Q

c.533G>A

2 papers

NM_006503.4

p.K192K

c.576G>A

1 paper

NM_006503.4

p.Q193_I194Splc

c.579+43G>A

1 paper

NM_006503.4

p.H135Q

c.405C>A

1 paper

NM_006503.4

p.R200Q

c.599G>A

1 paper

NM_006503.4

p.G201D

c.602G>A

1 paper

NM_006503.4

p.L116L

c.348G>C

1 paper

NM_006503.4

p.N110Y

c.328A>T

2 papers

NM_006503.4

p.A216T

c.646G>A

1 paper

NM_006503.4

p.V219V

c.657G>A

1 paper

NM_006503.4

p.I89I

c.267C>T