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

1–12 of 115 variants

4 papers

NM_002808.5

p.S88T

c.262T>A

3 papers

NM_002808.5

p.E313D

c.939G>C

3 papers

NM_002808.5

p.E313D

c.939G>T

2 papers

NM_002808.5

p.D7E

c.21C>A

2 papers

NM_002808.5

p.D7E

c.21C>G

2 papers

NM_002808.5

p.E32G

c.95A>G

2 papers

NM_002808.5

p.E42K

c.124G>A

2 papers

NM_002808.5

p.A176T

c.526G>A

2 papers

NM_002808.5

p.C459F

c.1376G>T

1 paper

NM_002808.5

p.M1I

c.3G>A

1 paper

NM_002808.5

p.E2G

c.5A>G

1 paper

NM_002808.5

p.P10A

c.28C>G