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.G740Splc

c.2219-1G>T

Surrounding Variants

2 papers

NM_002807.4

p.G740Splc

c.2219-4A>G

1 paper

NM_002807.4

p.T755S

c.2263A>T

1 paper

NM_002807.4

p.T755S

c.2264C>G

1 paper

NM_002807.4

p.W770C

c.2310G>C

1 paper

NM_002807.4

p.W770C

c.2310G>T

1 paper

NM_002807.4

p.P785R

c.2354C>G

1 paper

NM_002807.4

p.A815V

c.2444C>T

1 paper

NM_002807.4

p.P816H

c.2447C>A

1 paper

NM_002807.4

p.E818_K827del10

c.2452_2480del30

2 papers

NM_002807.4

p.E824K

c.2470G>A

1 paper

NM_002807.4

p.V832I

c.2494G>A

1 paper

NM_002807.4

p.V856L

c.2566G>C