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.R289*

c.865C>T

Surrounding Variants

1 paper

NM_002816.5

p.R289P

c.866G>C

2 papers

NM_002816.5

p.K295R

c.884A>G

1 paper

NM_002816.5

p.E297K

c.889G>A

1 paper

NM_002816.5

p.Y302*

c.906C>G

1 paper

NM_002816.5

p.Y302*

c.906C>A

1 paper

NM_002816.5

p.Q265_A266Splc

c.796-1G>A

2 papers

NM_002816.5

p.K303Splc

c.909-2A>G

1 paper

NM_002816.5

p.E313*

c.937G>T

1 paper

NM_002816.5

p.L320V

c.958C>G

1 paper

NM_002816.5

p.E327K

c.979G>A

1 paper

NM_002816.5

p.T338M

c.1013C>T

1 paper

NM_002816.5

p.F341L

c.1021T>C