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

1–12 of 43 variants

3 papers

NM_006503.4

p.A75V

c.224C>T

3 papers

NM_006503.4

p.R323W

c.967C>T

2 papers

NM_006503.4

p.V162A

c.485T>C

2 papers

NM_006503.4

p.R178Q

c.533G>A

2 papers

NM_006503.4

p.K192K

c.576G>A

2 papers

NM_006503.4

p.A216T

c.646G>A

2 papers

NM_006503.4

p.A271T

c.811G>A

2 papers

NM_006503.4

p.D276N

c.826G>A

1 paper

NM_006503.4

p.I4M

c.12A>G

1 paper

NM_006503.4

p.P32fs

c.94_95fs

1 paper

NM_006503.4

p.K62E

c.184A>G

1 paper

NM_006503.4

p.K66N

c.198G>C