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.S387R

c.1159A>C

Surrounding Variants

1 paper

NM_002803.4

p.S387R

c.1161C>A

1 paper

NM_002803.4

p.S387R

c.1161C>G

1 paper

NM_002803.4

p.G382Splc

c.1145-1G>C

1 paper

NM_002803.4

p.I397M

c.1191C>G

1 paper

NM_002803.4

p.A421T

c.1261G>A

1 paper

NM_002803.4

p.G382C

c.1144G>T

1 paper

NM_002803.4

p.K422R

c.1265A>G

1 paper

NM_002803.4

p.D338N

c.1012G>A

1 paper

NM_002803.4

p.A320T

c.958G>A

1 paper

NM_002803.4

p.K316E

c.946A>G

1 paper

NM_002803.4

p.N314S

c.941A>G

1 paper

NM_002803.4

p.R312K

c.935G>A