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.Q387R

c.1160A>G

Surrounding Variants

1 paper

NM_002808.5

p.Q387P

c.1160A>C

2 papers

NM_001278709.2

p.G227S

c.679G>A

NM_002808.5

p.G386S

c.1156G>A

1 paper

NM_002808.5

p.A383T

c.1147G>A

1 paper

NM_002808.5

p.K401R

c.1202A>G

1 paper

NM_002808.5

p.E354K

c.1060G>A

1 paper

NM_002808.5

p.K350T

c.1049A>C

1 paper

NM_002808.5

p.I348delFs

c.1042_1043delAT

1 paper

NM_002808.5

p.P342S

c.1024C>T

1 paper

NM_002808.5

p.G443E

c.1328G>A

2 papers

NM_002808.5

p.C459F

c.1376G>T

1 paper

NM_002808.5

p.L463L

c.1387C>T

1 paper

NM_002808.5

p.T318A

c.952A>G