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.E426A

c.1277A>C

Surrounding Variants

1 paper

NM_002804.5

p.A433V

c.1298C>T

1 paper

NM_002804.5

p.T416A

c.1246A>G

1 paper

NM_002804.5

p.A407T

c.1219G>A

1 paper

NM_002804.5

p.M405I

c.1215G>T

1 paper

NM_002804.5

p.M405I

c.1215G>C

1 paper

NM_002804.5

p.M405I

c.1215G>A

2 papers

NM_002804.5

p.A394T

c.1180G>A

1 paper

NM_002804.5

p.F391L

c.1173C>G

1 paper

NM_002804.5

p.F391L

c.1173C>A

1 paper

NM_002804.5

p.F391L

c.1171T>C

1 paper

NM_002804.5

p.R386H

c.1157G>A

2 papers

NM_002804.5

p.E383K

c.1147G>A