Varaico: Literature-Extracted Genetic Variants

PSMD2

162 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

RPN1_RPN2_Naa 56–354UCSCRPN1 N-terminal domain

PC_repaa 443–479UCSCProteasome/cyclosome repeat

PC_repaa 480–514UCSCProteasome/cyclosome repeat

RPN1_Caa 853–906UCSC26S proteasome non-ATPase regulatory subunit RPN1 C-terminal

Gene Aliases

HGNC Name

proteasome 26S subunit ubiquitin receptor, non-ATPase 2

HGNC Alias Symbols

S2; P97; TRAP2; MGC14274

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002808.5

p.A176T

c.526G>A

Surrounding Variants

1 paper

NM_002808.5

p.D174A

c.521A>C

1 paper

NM_002808.5

p.E172G

c.515A>G

1 paper

NM_002808.5

p.R181W

c.541C>T

1 paper

NM_002808.5

p.R181Q

c.542G>A

1 paper

NM_002808.5

p.E169K

c.505G>A

1 paper

NM_002808.5

p.L184Q

c.551T>A

1 paper

NM_002808.5

p.L185F

c.553C>T

1 paper

NM_002808.5

p.V188V

c.564G>T

1 paper

NM_002808.5

p.V192I

c.574G>A

1 paper

NM_002808.5

p.Y194F

c.581A>T

1 paper

NM_002808.5

p.E201D

c.603G>C

1 paper

NM_002808.5

p.E201D

c.603G>T