Varaico: Literature-Extracted Genetic Variants

Gene:PSMD8
Variant:p.I275_A278ins1

PSMD8

231 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

CSN8_PSD8_EIF3Kaa 186–327UCSCCSN8/PSMD8/EIF3K family

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 8

HGNC Alias Symbols

S14; Nin1p; p31; HIP6; HYPF; Rpn12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002812.5
p.I275_A278ins1
c.823_834dup12
Surrounding Variants
1 paper
NM_002812.5
p.C274delFs
c.822delC
1 paper
NM_002812.5
p.G273G
c.819G>A
1 paper
NM_002812.5
p.G273W
c.817G>T
1 paper
NM_002812.5
p.I271_A272insFs
c.813_814insG
1 paper
NM_002812.5
p.E280delFs
c.838delG
1 paper
NM_002812.5
p.L283V
c.847C>G
1 paper
NM_002812.5
p.R289W
c.865C>T
1 paper
NM_002812.5
p.F293F
c.879C>T
1 paper
NM_002812.5
p.T300fs
c.898_899fs
2 papers
NM_002812.5
p.K304E
c.910A>G
1 paper
NM_002812.5
p.W308C
c.924G>C
1 paper
NM_002812.5
p.W308C
c.924G>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."