Varaico: Literature-Extracted Genetic Variants

Gene:PSMA2
Variant:p.M203I

PSMA2

62 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 6–28UCSCProteasome subunit A N-terminal signature
Proteasomeaa 29–213UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit alpha 2

HGNC Alias Symbols

MU; HC3; PMSA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002787.5
p.M203I
c.609G>C
Surrounding Variants
1 paper
NM_002787.5
p.M203I
c.609G>T
1 paper
NM_002787.5
p.M203I
c.609G>A
1 paper
NM_002787.5
p.E205G
c.614A>G
1 paper
NM_002787.5
p.A216T
c.646G>A
1 paper
NM_002787.5
p.N166Y
c.496A>T
1 paper
NM_002787.5
p.F156_A157insG
c.466_470ins3
1 paper
NM_002787.5
p.G142R
c.424G>C
1 paper
NM_002787.5
p.G142R
c.424G>A
1 paper
NM_002787.5
p.N140D
c.418A>G
1 paper
NM_002787.5
p.G131*
c.391G>T
2 papers
NM_002787.5
p.G125D
c.374G>A
2 papers
NM_002787.5
p.L110V
c.328C>G
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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."