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

1 paper

NM_002808.5

p.N273H

c.817A>C

Surrounding Variants

1 paper

NM_002808.5

p.A269V

c.806C>T

1 paper

NM_002808.5

p.V288E

c.863T>A

1 paper

NM_002808.5

p.V237M

c.709G>A

1 paper

NM_002808.5

p.E312insFs

c.934dupG

3 papers

NM_002808.5

p.E313D

c.939G>C

3 papers

NM_002808.5

p.E313D

c.939G>T

1 paper

NM_002808.5

p.E315D

c.945G>C

1 paper

NM_002808.5

p.E315D

c.945G>T

1 paper

NM_002808.5

p.L317P

c.950T>C

1 paper

NM_002808.5

p.T318A

c.952A>G

1 paper

NM_002808.5

p.S235R

c.705T>A

1 paper

NM_002808.5

p.S235R

c.705T>G