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.D394G

c.1181A>G

Surrounding Variants

2 papers

NM_002805.6

p.D394_S395delFs

c.1182_1183delCA

2 papers

NM_002805.6

p.D394fs

c.1180_1181fs

2 papers

NM_002805.6

p.K393del1

c.1177_1178delAAG

1 paper

NM_002805.6

p.E396D

c.1188G>C

1 paper

NM_002805.6

p.E396D

c.1188G>T

1 paper

NM_002805.6

p.V387fs

c.1159_1160fs

1 paper

NM_002805.6

p.A386_V387delFs

c.1158_1159delAG

2 papers

NM_002805.6

p.M368T

c.1103T>C

1 paper

NM_002805.6

p.V362M

c.1084G>A

2 papers

NM_002805.6

p.K360_G361Splc

c.1080+2T>C

1 paper

NM_002805.6

p.V359L

c.1075G>C

1 paper

NM_002805.6

p.V359L

c.1075G>T