Varaico: Literature-Extracted Genetic Variants

Gene:PSMD5
Variant:p.L222F

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
1 paper
NM_005047.4
p.L222F
c.666G>C
Surrounding Variants
1 paper
NM_005047.4
p.L222F
c.666G>T
1 paper
NM_005047.4
p.V223G
c.668T>G
1 paper
NM_005047.4
p.Y202F
c.605A>T
1 paper
NM_005047.4
p.S199A
c.595T>G
1 paper
NM_005047.4
p.L188P
c.563T>C
1 paper
NM_005047.4
p.V231M
c.691G>A
1 paper
NM_005047.4
p.R182Q
c.545G>A
1 paper
NM_005047.4
p.T177I
c.530C>T
1 paper
NM_005047.4
p.D170N
c.508G>A
1 paper
NM_005047.4
p.D169A
c.506A>C
1 paper
NM_005047.4
p.N255D
c.763A>G
1 paper
NM_005047.4
p.L154V
c.460C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."