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.S235R

c.703A>C

Surrounding Variants

1 paper

NM_002808.5

p.S235R

c.705T>A

1 paper

NM_002808.5

p.S235R

c.705T>G

1 paper

NM_002808.5

p.A227T

c.679G>A

1 paper

NM_002808.5

p.D220G

c.659A>G

1 paper

NM_002808.5

p.A204A

c.612T>C

1 paper

NM_002808.5

p.A204fs

c.610_611fs

1 paper

NM_002808.5

p.H202Q

c.606T>A

1 paper

NM_002808.5

p.H202D

c.604C>G

1 paper

NM_002808.5

p.E201D

c.603G>C

1 paper

NM_002808.5

p.E201D

c.603G>T

1 paper

NM_002808.5

p.Y194F

c.581A>T

1 paper

NM_002808.5

p.V192I

c.574G>A