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.K196M

c.587A>T

Surrounding Variants

2 papers

NM_002805.6

p.K196fs

c.586_587fs

2 papers

NM_002805.6

p.K196delFs

c.587delA

2 papers

NM_002805.6

p.R201W

c.601C>T

2 papers

NM_002805.6

p.A202V

c.605C>T

2 papers

NM_002805.6

p.T207M

c.620C>T

3 papers

NM_002805.6

p.G216D

c.647G>A

2 papers

NM_002805.6

p.E218G

c.653A>G

1 paper

NM_002805.6

p.E218V

c.653A>T

1 paper

NM_002805.6

p.V220A

c.659T>C

1 paper

NM_002805.6

p.Q221insFs

c.662_663insG

2 papers

NM_002805.6

p.Q221R

c.662A>G

1 paper

NM_002805.6

p.V231M

c.691G>A