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

3 papers

NM_002816.5

p.L50delFs

c.148_149delAG

Surrounding Variants

3 papers

NM_002816.5

p.L50fs

c.148_149fs

1 paper

NM_002816.5

p.T54A

c.160A>G

1 paper

NM_002816.5

p.T46N

c.137C>A

1 paper

NM_002816.5

p.R55L

c.164G>T

1 paper

NM_002816.5

p.E45A

c.134A>C

2 papers

NM_002816.5

p.E42K

c.124G>A

1 paper

NM_002816.5

p.L40H

c.119T>A

1 paper

NM_002816.5

p.R39K

c.116G>A

1 paper

NM_002816.5

p.G38E

c.113G>A

1 paper

NM_002816.5

p.S64T

c.190T>A

1 paper

NM_002816.5

p.L67S

c.200T>C

1 paper

NM_002816.5

p.L67*

c.200T>A