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.A271T

c.811G>A

Surrounding Variants

1 paper

NM_006503.4

p.I270I

c.810C>T

2 papers

NM_006503.4

p.D276N

c.826G>A

1 paper

NM_006503.4

p.I262M

c.786C>G

1 paper

NM_006503.4

p.A258V

c.773C>T

1 paper

NM_006503.4

p.K255R

c.764A>G

1 paper

NM_006503.4

p.V250V

c.750G>A

1 paper

NM_006503.4

p.V250A

c.749T>C

1 paper

NM_006503.4

p.E242K

c.724G>A

1 paper

NM_006503.4

p.E234D

c.702G>C

1 paper

NM_006503.4

p.E234D

c.702G>T

1 paper

NM_006503.4

p.V231M

c.691G>A

1 paper

NM_006503.4

p.V230I

c.688G>A