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

1–12 of 114 variants

2 papers

NM_002809.4

p.A12V

c.35C>T

2 papers

NM_002809.4

p.S47S

c.141G>A

2 papers

NM_002809.4

p.V70F

c.208G>T

2 papers

NM_002809.4

p.Q279*

c.835C>T

2 papers

NM_002809.4

p.V335G

c.1004T>G

1 paper

NM_002809.4

p.M1T

c.2T>C

1 paper

NM_002809.4

p.M1I

c.3G>C

1 paper

NM_002809.4

p.M1I

c.3G>T

1 paper

NM_002809.4

p.K2ins1

c.4_5insCCC

1 paper

NM_002809.4

p.E4E

c.12G>A

1 paper

NM_002809.4

p.E4D

c.12G>C

1 paper

NM_002809.4

p.G5R

c.13G>C