Varaico: Literature-Extracted Genetic Variants

Gene:PSMA3
Variant:p.E247D

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
Selected Variant
1 paper
NM_002788.4
p.E247D
c.741A>C
Surrounding Variants
1 paper
NM_002788.4
p.E247D
c.741A>T
1 paper
NM_002788.4
p.S243C
c.728C>G
1 paper
NM_002788.4
p.A236G
c.707C>G
1 paper
NM_002788.4
p.E235D
c.705A>C
1 paper
NM_002788.4
p.E235D
c.705A>T
7 papers
NM_002788.4
p.R233del1
c.697_698delAGA
1 paper
NM_002788.4
p.I200V
c.598A>G
1 paper
NM_002788.4
p.M182V
c.544A>G
1 paper
NM_002788.4
p.I166F
c.496A>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."