Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMD5

PSMD5

182 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

Proteasom_PSMBaa 1–504UCSCProteasome non-ATPase 26S subunit

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 5

HGNC Alias Symbols

S5B; KIAA0072

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 65 variants

2 papers

chr9:120842861 C>A

NM_005047.4

p.A17S

c.49G>T

Proteasom_PSMB

Exome: 0.4% (AC=6243, hom=26)Genome: 0.5% (AC=704, hom=9)16 overlapping SVs

2 papers

chr9:120842848 T>C

NM_005047.4

p.E21G

c.62A>G

Proteasom_PSMB

Exome: 1.7% (AC=25051, hom=2096)Genome: 2.5% (AC=3838, hom=320)16 overlapping SVs

2 papers

chr9:120824635 T>G

NM_005047.4

p.I289L

c.865A>C

Proteasom_PSMB

Exome: 0.4% (AC=5525, hom=11)Genome: 0.2% (AC=354, hom=0)16 overlapping SVs

2 papers

chr9:120821375 A>C

NM_005047.4

p.S366A

c.1096T>G

Proteasom_PSMB

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:120842898 C>G

NM_005047.4

p.Q4H

c.12G>C

Proteasom_PSMB

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

1 paper

chr9:120842898 C>T

NM_005047.4

p.Q4Q

c.12G>A

Proteasom_PSMB

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

1 paper

chr9:120842897 C>G

NM_005047.4

p.A5P

c.13G>C

Proteasom_PSMB

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:120842881 C>G

NM_005047.4

p.R10T

c.29G>C

Proteasom_PSMB

Exome: 0.0% (AC=5, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr9:120842865 C>G

NM_005047.4

p.L15L

c.45G>C

Proteasom_PSMB

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:120842845 A>C

NM_005047.4

p.L22R

c.65T>G

Proteasom_PSMB

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:120842839 G>T

NM_005047.4

p.A24E

c.71C>A

Proteasom_PSMB

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:120842832 G>T

NM_005047.4

p.H26Q

c.78C>A

Proteasom_PSMB

exact variant not in gnomAD16 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."