Varaico: Literature-Extracted Genetic Variants

PSMD3

152 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

TPR_PSMD3_Naa 67–364UCSCPSMD3-like, N-terminal TPR repeats

PCIaa 379–462UCSCPCI domain

Rpn3_Caa 465–532UCSCProteasome regulatory subunit C-terminal

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 3

HGNC Previous Symbol

TSTA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002809.4

p.S47S

c.141G>A

Surrounding Variants

1 paper

NM_002809.4

p.E50G

c.149A>G

1 paper

NM_002809.4

p.G45S

c.133G>A

1 paper

NM_002809.4

p.G44S

c.130G>A

1 paper

NM_002809.4

p.E40_A41del2

c.118_122del6

1 paper

NM_002809.4

p.A57T

c.169G>A

1 paper

NM_002809.4

p.A57V

c.170C>T

1 paper

NM_002809.4

p.A58P

c.172G>C

1 paper

NM_002809.4

p.P32L

c.95C>T

1 paper

NM_002809.4

p.P26P

c.78C>G

1 paper

NM_002809.4

p.E25_P26delFs

c.75_76delAC

1 paper

NM_002809.4

p.V70L

c.208G>C

2 papers

NM_002809.4

p.V70F

c.208G>T