Varaico: Literature-Extracted Genetic Variants

Gene:PSMD13
Variant:p.I118T

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.I118T
c.353T>C
Surrounding Variants
1 paper
NM_002817.4
p.A120T
c.358G>A
1 paper
NM_002817.4
p.G126E
c.377G>A
1 paper
NM_002817.4
p.A110P
c.328G>C
1 paper
NM_002817.4
p.A110S
c.328G>T
1 paper
NM_002817.4
p.E98G
c.293A>G
1 paper
NM_002817.4
p.V92M
c.274G>A
1 paper
NM_002817.4
p.R85K
c.254G>A
1 paper
NM_002817.4
p.S75F
c.224C>T
1 paper
NM_175932.3
p.R72W
c.214A>T
2 papers
NM_002817.4
p.E68K
c.202G>A
1 paper
NM_002817.4
p.F67L
c.201T>A
1 paper
NM_002817.4
p.F67I
c.199T>A
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