Varaico: Literature-Extracted Genetic Variants

Gene:PSMD8
Variant:p.T131S

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.T131S
c.391A>T
Surrounding Variants
1 paper
NM_002812.5
p.G133R
c.397G>A
1 paper
NM_002812.5
p.L129L
c.385T>C
1 paper
NM_002812.5
p.F128C
c.383T>G
1 paper
NM_002812.5
p.T134I
c.401C>T
1 paper
NM_002812.5
p.K135R
c.404A>G
1 paper
NM_002812.5
p.L124P
c.371T>C
1 paper
NM_002812.5
p.L124delFs
c.371delT
1 paper
NM_002812.5
p.K120_L121Splc
c.361-1G>A
1 paper
NM_002812.5
p.L141R
c.422T>G
1 paper
NM_002812.5
p.I142fs
c.424_425fs
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."