Varaico: Literature-Extracted Genetic Variants

PSMC6

146 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 71–126UCSCProteasomal ATPase OB C-terminal domain

AAAaa 170–303UCSCATPase family associated with various cellular activities (AAA)

AAAaa 184–317UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 339–383UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 6

HGNC Alias Symbols

p42; RPT5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002806.5

p.R25H

c.74G>A

Surrounding Variants

1 paper

NM_002806.5

p.E21Q

c.61G>C

1 paper

NM_002806.5

p.E18V

c.53A>T

1 paper

NM_002806.5

p.L17H

c.50T>A

1 paper

NM_002806.5

p.L16L

c.48G>A

1 paper

NM_002806.5

p.L16F

c.48G>C

1 paper

NM_002806.5

p.R13insFs

c.38_39insG

1 paper

NM_002806.5

p.P4R

c.11C>G

1 paper

NM_002806.5

p.M1L

c.1A>C

1 paper

NM_002806.5

p.M1L

c.1A>T

1 paper

NM_002806.5

p.M1delFs

c.2delT

1 paper

NM_002806.5

p.L29Splc

c.86-104A>G

1 paper

NM_002806.5

p.L29Splc

c.86-46C>T