Varaico: Literature-Extracted Genetic Variants

PSMC1

111 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

Prot_ATP_ID_OB_Caa 109–163UCSCProteasomal ATPase OB C-terminal domain

AAAaa 222–355UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 377–421UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 1

HGNC Alias Symbols

S4; p56; RPT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002802.3

p.I328T

c.983T>C

NM_001330212.2

p.I255T

c.764T>C

Surrounding Variants

1 paper

NM_002802.3

p.V327A

c.980T>C

1 paper

NM_002802.3

p.L341P

c.1022T>C

1 paper

NM_002802.3

p.P344Q

c.1031C>A

1 paper

NM_002802.3

p.L310S

c.929T>C

1 paper

NM_002802.3

p.R307G

c.919C>G

1 paper

NM_002802.3

p.I305T

c.914T>C

1 paper

NM_002802.3

p.D296V

c.887A>T

1 paper

NM_002802.3

p.T360M

c.1079C>T

1 paper

NM_002802.3

p.R371_L380del10

c.1111_1139del30

1 paper

NM_002802.3

p.R371K

c.1112G>A

1 paper

NM_002802.3

p.D381H

c.1141G>C

1 paper

NM_002802.3

p.D394Y

c.1180G>T