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

1 paper

NM_002809.4

p.Y288insFs

c.864dupC

Surrounding Variants

1 paper

NM_002809.4

p.Y288*

c.864C>A

1 paper

NM_002809.4

p.Y288*

c.864C>G

1 paper

NM_002809.4

p.R287_Y288insFs

c.860_863dup4

1 paper

NM_002809.4

p.T292S

c.874A>T

1 paper

NM_002809.4

p.N283N

c.849T>C

1 paper

NM_002809.4

p.Q279E

c.835C>G

2 papers

NM_002809.4

p.Q279*

c.835C>T

1 paper

NM_002809.4

p.K273_F276delFs

c.818_827del10

1 paper

NM_002809.4

p.E268Q

c.802G>C

1 paper

NM_002809.4

p.D265N

c.793G>A

1 paper

NM_002809.4

p.S262R

c.786C>A

1 paper

NM_002809.4

p.S262R

c.786C>G