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

1–12 of 70 variants

5 papers

NM_002804.5

p.S376Splc

c.1127+337A>G

4 papers

NM_002804.5

p.R304W

c.910C>T

2 papers

NM_002804.5

p.R171W

c.511C>T

2 papers

NM_002804.5

p.M175V

c.523A>G

2 papers

NM_002804.5

p.P229L

c.686C>T

2 papers

NM_002804.5

p.A237V

c.710C>T

2 papers

NM_002804.5

p.M259V

c.775A>G

2 papers

NM_002804.5

p.M259T

c.776T>C

2 papers

NM_002804.5

p.I261T

c.782T>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.R269P

c.806G>C