Varaico: Literature-Extracted Genetic Variants

PSMD12

243 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

PSMD12-CSN4_Naa 42–259UCSCPSMD12/CSN4, N-terminal

PCIaa 314–417UCSCPCI domain

RPN5_Caa 422–454UCSC26S proteasome regulatory subunit RPN5 C-terminal domain

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 12

HGNC Alias Symbols

p55; Rpn5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002816.5

p.L90M

c.268T>A

Surrounding Variants

1 paper

NM_002816.5

p.K92R

c.275A>G

1 paper

NM_002816.5

p.N86Y

c.256A>T

1 paper

NM_002816.5

p.L82F

c.246A>T

1 paper

NM_002816.5

p.K98R

c.293A>G

1 paper

NM_002816.5

p.W80*

c.239G>A

1 paper

NM_002816.5

p.E79D

c.237A>T

1 paper

NM_002816.5

p.E79A

c.236A>C

2 papers

NM_002816.5

p.Q99_A100Splc

c.297+5G>A

1 paper

NM_002816.5

p.A77S

c.229G>T

1 paper

NM_002816.5

p.E76A

c.227A>C

1 paper

NM_002816.5

p.C74Y

c.221G>A

1 paper

NM_002816.5

p.V71V

c.213G>T