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.D286A

c.857A>C

Surrounding Variants

1 paper

NM_002804.5

p.D286Y

c.856G>T

2 papers

NM_002804.5

p.E287Q

c.859G>C

1 paper

NM_002804.5

p.E287D

c.861G>C

1 paper

NM_002804.5

p.I291V

c.871A>G

1 paper

NM_002804.5

p.L274L

c.822G>T

2 papers

NM_002804.5

p.R269P

c.806G>C

2 papers

NM_002804.5

p.G262R

c.784G>C

2 papers

NM_002804.5

p.G262R

c.784G>A

2 papers

NM_002804.5

p.I261T

c.782T>C

2 papers

NM_002804.5

p.M259T

c.776T>C

2 papers

NM_002804.5

p.M259V

c.775A>G

1 paper

NM_002804.5

p.L256L

c.768G>C