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

1 paper

NM_002802.3

p.S137A

c.409T>G

Surrounding Variants

1 paper

NM_002802.3

p.S129A

c.385T>G

1 paper

NM_002802.3

p.L151M

c.451C>A

1 paper

NM_002802.3

p.S124_V127delFs

c.371_380del10

1 paper

NM_002802.3

p.A121G

c.362C>G

1 paper

NM_002802.3

p.N153S

c.458A>G

1 paper

NM_002802.3

p.I115I

c.345C>T

1 paper

NM_002802.3

p.E113K

c.337G>A

1 paper

NM_002802.3

p.P106S

c.316C>T

1 paper

NM_002802.3

p.K175E

c.523A>G

1 paper

NM_002802.3

p.Q181_A185delFs

c.541_553del13

1 paper

NM_002802.3

p.I187fs

c.559_560fs

1 paper

NM_002802.3

p.G188insFs

c.562dupG