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.Y279*

c.837T>A

Surrounding Variants

1 paper

NM_002815.4

p.Y279*

c.837T>G

1 paper

NM_002815.4

p.R282K

c.845G>A

1 paper

NM_002815.4

p.T263Splc

c.788+2T>C

1 paper

NM_002815.4

p.T263I

c.788C>T

1 paper

NM_002815.4

p.D240N

c.718G>A

1 paper

NM_002815.4

p.E234D

c.702G>C

1 paper

NM_002815.4

p.E234D

c.702G>T

1 paper

NM_002815.4

p.E221G

c.662A>G

1 paper

NM_002815.4

p.T284_E285delFs

c.851_854del4

1 paper

NM_002815.4

p.T284fs

c.850_851fs

1 paper

NM_002815.4

p.A305V

c.914C>T

1 paper

NM_002815.4

p.R310W

c.928C>T