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.K184_G185Splc

c.552+2T>C

Surrounding Variants

2 papers

NM_002805.6

p.P183L

c.548C>T

1 paper

NM_002805.6

p.P172S

c.514C>T

1 paper

NM_002805.6

p.E160A

c.479A>C

1 paper

NM_002805.6

p.G152S

c.454G>A

1 paper

NM_002805.6

p.Y148*

c.444T>A

1 paper

NM_002805.6

p.Y148*

c.444T>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

1 paper

NM_002805.6

p.S120R

c.360C>A

1 paper

NM_002805.6

p.V108V

c.324G>A

2 papers

NM_002805.6

p.K196delFs

c.587delA