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

1–12 of 139 variants

7 papers

NM_002816.5

p.R123*

c.367C>T

7 papers

NM_002816.5

p.R201*

c.601C>T

6 papers

NM_002816.5

p.N156I

c.467A>T

4 papers

NM_002816.5

p.L90M

c.268T>A

4 papers

NM_002816.5

p.R289*

c.865C>T

3 papers

NM_002816.5

p.L50fs

c.148_149fs

3 papers

NM_002816.5

p.L50delFs

c.148_149delAG

3 papers

NM_002816.5

p.T148_L149del2

c.442_446del6

3 papers

NM_002816.5

p.Y226D

c.676T>G

2 papers

NM_002816.5

p.E42K

c.124G>A

2 papers

NM_002816.5

p.Q99_A100Splc

c.297+5G>A

2 papers

NM_002816.5

p.Q106*

c.316C>T