Varaico: Literature-Extracted Genetic Variants

Gene:PSMD13
Variant:p.S171S

PSMD13

47 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

PSD13_Naa 21–237UCSCPSD13 N-terminal repeats
PCIaa 246–335UCSCPCI domain

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 13

HGNC Alias Symbols

p40.5; Rpn9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002817.4
p.S171S
c.513C>T
Surrounding Variants
1 paper
NM_002817.4
p.H169H
c.507C>T
1 paper
NM_002817.4
p.R178Q
c.533G>A
1 paper
NM_002817.4
p.Q164E
c.490C>G
1 paper
NM_002817.4
p.K161T
c.482A>C
1 paper
NM_002817.4
p.K161_Y163del3
c.481_488del9
1 paper
NM_002817.4
p.F155V
c.463T>G
5 papers
NM_002817.4
p.S150L
c.449C>T
1 paper
NM_002817.4
p.V148A
c.443T>C
1 paper
NM_002817.4
p.K132_E133Splc
c.397-5T>C
1 paper
NM_002817.4
p.S191A
c.571T>G
1 paper
NM_002817.4
p.E192G
c.575A>G
1 paper
NM_002817.4
p.E192E
c.576G>A
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