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

1 paper

NM_002805.6

p.V231M

c.691G>A

Surrounding Variants

1 paper

NM_002805.6

p.R232W

c.694A>T

1 paper

NM_002805.6

p.S244_I245insFs

c.732_733insG

1 paper

NM_002805.6

p.I245V

c.733A>G

1 paper

NM_002805.6

p.E250Q

c.748G>C

2 papers

NM_002805.6

p.E250G

c.749A>G

2 papers

NM_002805.6

p.E250V

c.749A>T

1 paper

NM_002805.6

p.D252N

c.754G>A

1 paper

NM_002805.6

p.I254I

c.762C>T

4 papers

NM_002805.6

p.R258W

c.772C>T

1 paper

NM_002805.6

p.R258Q

c.773G>A

1 paper

NM_002805.6

p.E260_G261insFs

c.780_781insA

1 paper

NM_002805.6

p.G262fs

c.784_785fs