Varaico: Literature-Extracted Genetic Variants

PSMC2

58 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

OB_PRS7aa 86–154UCSC26S proteasome regulatory subunit 7, OB domain

AAAaa 212–345UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 367–411UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 2

HGNC Alias Symbols

MSS1; S7; Nbla10058; RPT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002803.4

p.E107V

c.320A>T

Surrounding Variants

1 paper

NM_002803.4

p.V115I

c.343G>A

1 paper

NM_002803.4

p.C98R

c.292T>C

1 paper

NM_002803.4

p.E135G

c.404A>G

1 paper

NM_002803.4

p.V140A

c.419T>C

1 paper

NM_002803.4

p.G141Splc

c.422+2T>G

2 papers

NM_002803.4

p.T162A

c.484A>G

1 paper

NM_002803.4

p.E182K

c.544G>A

1 paper

NM_002803.4

p.E199D

c.597G>C

1 paper

NM_002803.4

p.E199D

c.597G>T

1 paper

NM_002803.4

p.E207K

c.619G>A

1 paper

NM_002803.4

p.T223I

c.668C>T

1 paper

NM_002803.4

p.R258H

c.773G>A