Varaico: Literature-Extracted Genetic Variants

Gene:PSMD8
Variant:p.K179Splc

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.K179Splc
c.536+2T>C
Surrounding Variants
1 paper
NM_002812.5
p.K179R
c.536A>G
1 paper
NM_002812.5
p.Y175_F176insFs
c.525_526insAG
1 paper
NM_002812.5
p.C173insFs
c.518_519insTG
1 paper
NM_002812.5
p.C173del1
c.517_518delTGC
1 paper
NM_002812.5
p.L171F
c.511C>T
1 paper
NM_002812.5
p.K159N
c.477G>C
1 paper
NM_002812.5
p.K159N
c.477G>T
2 papers
NM_002812.5
p.R158H
c.473G>A
1 paper
NM_002812.5
p.Q153_W154insFs
c.459_460insTA
1 paper
NM_002812.5
p.G151E
c.452G>A
1 paper
NM_002812.5
p.L143P
c.428T>C
1 paper
NM_002812.5
p.L143R
c.428T>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."