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.L354delFs

c.1060_1061delAA

Surrounding Variants

2 papers

NM_002816.5

p.L354fs

c.1060_1061fs

1 paper

NM_002816.5

p.N356I

c.1067A>T

1 paper

NM_002816.5

p.R357fs

c.1069_1070fs

1 paper

NM_002816.5

p.R357S

c.1071A>T

1 paper

NM_002816.5

p.R357S

c.1071A>C

1 paper

NM_002816.5

p.R357fs

c.1069_1070fs

2 papers

NM_002816.5

p.V358A

c.1073T>C

1 paper

NM_002816.5

p.R357_V358delFs

c.1071_1072delCT

1 paper

NM_002816.5

p.G347V

c.1040G>T

1 paper

NM_002816.5

p.G347A

c.1040G>C

2 papers

NM_002816.5

p.H361_N362Splc

c.1083+1G>A

1 paper

NM_002816.5

p.G347D

c.1040G>A