Varaico: Literature-Extracted Genetic Variants

Gene:PSMA3

PSMA3

59 papers

RefSeq Summary

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed...

Pfam Domains

Proteasome_A_Naa 8–30UCSCProteasome subunit A N-terminal signature
Proteasomeaa 31–217UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit alpha 3

HGNC Alias Symbol

HC8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
7 papers
NM_002788.4
p.R233del1
c.697_698delAGA
3 papers
NM_002788.4
p.H111fs
c.331_332fs
3 papers
NM_002788.4
p.S135Splc
c.404+2T>C
3 papers
NM_002788.4
p.S135Splc
c.404+2T>G
1 paper
NM_002788.4
p.M1T
c.2T>C
1 paper
NM_002788.4
p.D9H
c.25G>C
1 paper
NM_002788.4
p.F15insFs
c.44_45insG
1 paper
NM_002788.4
p.Y26C
c.77A>G
1 paper
NM_002788.4
p.G45C
c.133G>T
1 paper
NM_002788.4
p.G49V
c.146G>T
1 paper
NM_002788.4
p.A92T
c.274G>A
1 paper
NM_002788.4
p.R93I
c.278G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."