Varaico: Literature-Extracted Genetic Variants

Gene:PSMD3
Variant:p.K2ins1

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.K2ins1
c.4_5insCCC
Surrounding Variants
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.M1T
c.2T>C
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
1 paper
NM_002809.4
p.G5C
c.13G>T
1 paper
NM_002809.4
p.G11D
c.32G>A
2 papers
NM_002809.4
p.A12V
c.35C>T
1 paper
NM_002809.4
p.P19S
c.55C>T
1 paper
NM_002809.4
p.G20S
c.58G>A
1 paper
NM_002809.4
p.E23D
c.69A>T
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