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.L52P

c.155T>C

Surrounding Variants

1 paper

NM_002805.6

p.N50fs

c.148_149fs

1 paper

NM_002805.6

p.Q48insFs

c.142_143ins44

1 paper

NM_002805.6

p.V56Splc

c.166+2T>A

1 paper

NM_002805.6

p.V56Splc

c.166+2T>C

1 paper

NM_002805.6

p.V56Splc

c.166+2T>G

1 paper

NM_002805.6

p.R44W

c.130A>T

1 paper

NM_002805.6

p.L59L

c.175T>C

2 papers

NM_002805.6

p.R60Q

c.179G>A

1 paper

NM_002805.6

p.Q69*

c.205C>T

2 papers

NM_002805.6

p.Q69R

c.206A>G

1 paper

NM_002805.6

p.Y72C

c.215A>G

1 paper

NM_002805.6

p.G74R

c.220G>A