Varaico: Literature-Extracted Genetic Variants

Gene:PSMD13
Variant:p.P5L

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.P5L
c.14C>T
Surrounding Variants
1 paper
NM_002817.4
p.F7Y
c.20T>A
1 paper
NM_002817.4
p.Q12*
c.34C>T
4 papers
NM_002817.4
p.N13S
c.38A>G
1 paper
NM_002817.4
p.E27K
c.79G>A
1 paper
NM_002817.4
p.D54insFs
c.160dupG
1 paper
NM_002817.4
p.D54_G55del1
c.161_163delATG
1 paper
NM_002817.4
p.D54G
c.161A>G
2 papers
NM_002817.4
p.S65T
c.194G>C
1 paper
NM_002817.4
p.E66K
c.196G>A
1 paper
NM_002817.4
p.F67I
c.199T>A
1 paper
NM_002817.4
p.F67L
c.201T>A
2 papers
NM_002817.4
p.E68K
c.202G>A
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