Varaico: Literature-Extracted Genetic Variants

Gene:PSME1

PSME1

31 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

PA28_Naa 8–68UCSCProteasome activator PA28, N-terminal
PA28_Caa 103–247UCSCProteasome activator PA28, C-terminal

Gene Aliases

HGNC Name

proteasome activator subunit 1

HGNC Alias Symbols

IFI5111; PA28alpha

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
2 papers
NM_006263.4
p.K36del1
c.106_107delAAG
2 papers
NM_006263.4
p.T244K
c.731C>A
1 paper
NM_006263.4
p.E9K
c.25G>A
1 paper
NM_006263.4
p.K13N
c.39G>C
1 paper
NM_006263.4
p.K13N
c.39G>T
1 paper
NM_006263.4
p.K24_T25Splc
c.72+27C>T
1 paper
NM_006263.4
p.N50S
c.149A>G
1 paper
NM_006263.4
p.S55N
c.164G>A
1 paper
NM_006263.4
p.N105S
c.314A>G
1 paper
NM_006263.4
p.T132T
c.396C>T
1 paper
NM_006263.4
p.N146Y
c.436A>T
1 paper
NM_006263.4
p.N147D
c.439A>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."