Varaico: Literature-Extracted Genetic Variants

Gene:PSMD13
Variant:p.R247Q

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
1 paper
NM_002817.4
p.R247Q
c.740G>A
Surrounding Variants
1 paper
NM_002817.4
p.R247W
c.739C>T
1 paper
NM_002817.4
p.F248L
c.742T>C
1 paper
NM_002817.4
p.F248L
c.744C>A
1 paper
NM_002817.4
p.F248L
c.744C>G
1 paper
NM_002817.4
p.L237V
c.709C>G
1 paper
NM_002817.4
p.G209R
c.625G>A
1 paper
NM_002817.4
p.L206R
c.617T>G
2 papers
NM_002817.4
p.L205F
c.613C>T
1 paper
NM_002817.4
p.G204E
c.611G>A
1 paper
NM_002817.4
p.G201R
c.601G>A
1 paper
NM_002817.4
p.T199A
c.595A>G
1 paper
NM_002817.4
p.Q194R
c.581A>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."