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

1 paper

NM_002816.5

p.K160N

c.480A>T

Surrounding Variants

1 paper

NM_002816.5

p.K160N

c.480A>C

1 paper

NM_002816.5

p.E161A

c.482A>C

6 papers

NM_002816.5

p.N156I

c.467A>T

1 paper

NM_002816.5

p.I165T

c.494T>C

1 paper

NM_002816.5

p.E154K

c.460G>A

2 papers

NM_002816.5

p.Q170fs

c.508_509fs

1 paper

NM_002816.5

p.Q170delFs

c.508_509delTG

3 papers

NM_002816.5

p.T148_L149del2

c.442_446del6

2 papers

NM_002816.5

p.L149*

c.446T>G

2 papers

NM_002816.5

p.L149*

c.446T>A

1 paper

NM_002816.5

p.K147E

c.439A>G

1 paper

NM_002816.5

p.L145_T146delFs

c.435_438del4