Varaico: Literature-Extracted Genetic Variants

PSMC5

104 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 73–128UCSCProteasomal ATPase OB C-terminal domain

AAAaa 186–319UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 341–385UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 5

HGNC Alias Symbols

SUG1; p45/SUG; TBP10; p45; S8; SUG-1; RPT6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002805.6

p.E323del1

c.967_968delGAG

Surrounding Variants

2 papers

NM_002805.6

p.P320H

c.959C>A

6 papers

NM_002805.6

p.P320R

c.959C>G

1 paper

NM_002805.6

p.E323fs

c.967_968fs

1 paper

NM_002805.6

p.P318L

c.953C>T

1 paper

NM_002805.6

p.P318delFs

c.953delC

1 paper

NM_002805.6

p.R310S

c.928C>A

2 papers

NM_002805.6

p.E323_A324Splc

c.970-2A>G

5 papers

NM_002805.6

p.R325W

c.973C>T

1 paper

NM_002805.6

p.R325P

c.974G>C

1 paper

NM_002805.6

p.I342insFs

c.1025_1026ins4

1 paper

NM_002805.6

p.A354V

c.1061C>T

2 papers

NM_002805.6

p.K290_V291Splc

c.870+2T>C