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

1–12 of 65 variants

2 papers

NM_002802.3

p.E75A

c.224A>C

2 papers

NM_002802.3

p.I328T

c.983T>C

1 paper

NM_002802.3

p.M1delFs

c.2delT

1 paper

NM_002802.3

p.P11P

c.33T>A

1 paper

NM_002802.3

p.G12A

c.35G>C

1 paper

NM_002802.3

p.G12V

c.35G>T

1 paper

NM_002802.3

p.G13V

c.38G>T

1 paper

NM_002802.3

p.K16insFs

c.46dupA

1 paper

NM_002802.3

p.D18A

c.53A>C

1 paper

NM_002802.3

p.K19_D20Splc

c.58-9C>A

1 paper

NM_002802.3

p.D20A

c.59A>C

1 paper

NM_002802.3

p.E26A

c.77A>C