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

1–12 of 90 variants

6 papers

NM_002805.6

p.P320R

c.959C>G

5 papers

NM_002805.6

p.R325W

c.973C>T

4 papers

NM_002805.6

p.R258W

c.772C>T

3 papers

NM_002805.6

p.G216D

c.647G>A

2 papers

NM_002805.6

p.L52P

c.155T>C

2 papers

NM_002805.6

p.R60Q

c.179G>A

2 papers

NM_002805.6

p.Q69R

c.206A>G

2 papers

NM_002805.6

p.M138I

c.414G>A

2 papers

NM_002805.6

p.M138I

c.414G>C

2 papers

NM_002805.6

p.M138I

c.414G>T

2 papers

NM_002805.6

p.P183L

c.548C>T

2 papers

NM_002805.6

p.K184_G185Splc

c.552+2T>C