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.Y40C

c.119A>G

Surrounding Variants

1 paper

NM_002806.5

p.Q39Q

c.117G>A

1 paper

NM_002806.5

p.K42R

c.125A>G

1 paper

NM_002806.5

p.T37N

c.110C>A

1 paper

NM_002806.5

p.K34T

c.101A>C

1 paper

NM_002806.5

p.L33*

c.98T>A

1 paper

NM_002806.5

p.L29Splc

c.86-46C>T

1 paper

NM_002806.5

p.L29Splc

c.86-104A>G

1 paper

NM_002806.5

p.L61delFs

c.183delT

1 paper

NM_002806.5

p.K62E

c.184A>G

1 paper

NM_002806.5

p.F69Splc

c.205+1G>A

1 paper

NM_002806.5

p.F69Splc

c.205+2T>C

1 paper

NM_002806.5

p.F69Splc

c.205+5G>A