Varaico: Literature-Extracted Genetic Variants

Gene:PSMD5
Variant:p.I289L

PSMD5

182 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

Proteasom_PSMBaa 1–504UCSCProteasome non-ATPase 26S subunit

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 5

HGNC Alias Symbols

S5B; KIAA0072

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005047.4
p.I289L
c.865A>C
Surrounding Variants
1 paper
NM_005047.4
p.R292C
c.874C>T
1 paper
NM_005047.4
p.L280_M283del4
c.838_848del12
1 paper
NM_005047.4
p.K275K
c.825G>A
1 paper
NM_005047.4
p.M303I
c.909G>T
1 paper
NM_005047.4
p.M303I
c.909G>C
1 paper
NM_005047.4
p.M303I
c.909G>A
1 paper
NM_005047.4
p.V274M
c.820G>A
1 paper
NM_005047.4
p.I304M
c.912A>G
1 paper
NM_005047.4
p.G272Splc
c.815-5T>C
1 paper
NM_005047.4
p.A315T
c.943G>A
1 paper
NM_005047.4
p.N255D
c.763A>G
1 paper
NM_005047.4
p.V231M
c.691G>A
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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."