Varaico: Literature-Extracted Genetic Variants

PSMC3

79 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 90–165UCSCProteasomal ATPase OB C-terminal domain

AAAaa 223–356UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 378–422UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 3

HGNC Alias Symbols

TBP1; TBP-1; RPT5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002804.5

p.T163M

c.488C>T

Surrounding Variants

2 papers

NM_002804.5

p.R171W

c.511C>T

2 papers

NM_002804.5

p.M175V

c.523A>G

1 paper

NM_002804.5

p.L139*

c.416T>A

1 paper

NM_002804.5

p.D107N

c.319G>A

1 paper

NM_002804.5

p.D98H

c.292G>C

1 paper

NM_002804.5

p.N92N

c.276C>T

1 paper

NM_002804.5

p.V90L

c.268G>C

1 paper

NM_002804.5

p.Y88H

c.262T>C

1 paper

NM_002804.5

p.T85T

c.255C>A

1 paper

NM_002804.5

p.E78Q

c.232G>C

1 paper

NM_002804.5

p.A68V

c.203C>T

1 paper

NM_002804.5

p.N207H

c.619A>C