Varaico: Literature-Extracted Genetic Variants

PSMD1

123 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

RPN2_Naa 3–281UCSC26S proteasome subunit RPN2, N-terminal domain

PC_repaa 403–435UCSCProteasome/cyclosome repeat

PC_repaa 441–474UCSCProteasome/cyclosome repeat

PC_repaa 476–510UCSCProteasome/cyclosome repeat

PC_repaa 511–545UCSCProteasome/cyclosome repeat

HEAT_2aa 599–692UCSCHEAT repeats

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 1

HGNC Alias Symbol

P112

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002807.4

p.G7insFs

c.21dupA

Surrounding Variants

1 paper

NM_002807.4

p.D13N

c.37G>A

1 paper

NM_002807.4

p.D15G

c.44A>G

1 paper

NM_002807.4

p.D33_W35Fs

c.98_104delinsTCCFs

1 paper

NM_002807.4

p.V42I

c.124G>A

1 paper

NM_002807.4

p.I45M

c.135A>G

2 papers

NM_002807.4

p.R55Q

c.164G>A

1 paper

NM_002807.4

p.F59L

c.175T>C

1 paper

NM_002807.4

p.F59L

c.177T>A

1 paper

NM_002807.4

p.F59L

c.177T>G

1 paper

NM_002807.4

p.L62I

c.184T>A

1 paper

NM_002807.4

p.G85E

c.254G>A

1 paper

NM_002807.4

p.F88L

c.264C>A