Varaico: Literature-Extracted Genetic Variants

PSMD11

53 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

RPN6_Naa 6–140UCSC26S proteasome regulatory subunit RPN6 N-terminal domain

PCIaa 306–389UCSCPCI domain

RPN6_C_helixaa 393–419UCSC26S proteasome subunit RPN6 C-terminal helix domain

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 11

HGNC Alias Symbols

S9; p44.5; MGC3844; Rpn6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002815.4

p.E100fs

c.298_299fs

Surrounding Variants

1 paper

NM_002815.4

p.E100_E106delFs

c.299_318del20

1 paper

NM_002815.4

p.R90Q

c.269G>A

1 paper

NM_002815.4

p.R90G

c.268C>G

3 papers

NM_002815.4

p.R90*

c.268C>T

1 paper

NM_002815.4

p.F76F

c.228C>T

1 paper

NM_002815.4

p.P75L

c.224C>T

2 papers

NM_002815.4

p.E41K

c.121G>A

1 paper

NM_002815.4

p.L111I

c.331T>A

1 paper

NM_002815.4

p.L129F

c.387G>C