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.T219T

c.657A>G

Surrounding Variants

1 paper

NM_002816.5

p.E216K

c.646G>A

1 paper

NM_002816.5

p.I205F

c.613A>T

7 papers

NM_002816.5

p.R201*

c.601C>T

1 paper

NM_002816.5

p.Y199*

c.597C>A

1 paper

NM_002816.5

p.D198A

c.593A>C

1 paper

NM_002816.5

p.V196G

c.587T>G

1 paper

NM_002816.5

p.E220_K221Splc

c.661-19T>C

1 paper

NM_002816.5

p.C193R

c.577T>C

3 papers

NM_002816.5

p.Y226D

c.676T>G

2 papers

NM_002816.5

p.R182*

c.544C>T

1 paper

NM_002816.5

p.K180N

c.540A>T

1 paper

NM_002816.5

p.K180N

c.540A>C