Varaico: Literature-Extracted Genetic Variants

PSMB7

45 papers

RefSeq Summary

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed...

Pfam Domains

Proteasomeaa 40–221UCSCProteasome subunit

Pr_beta_Caa 235–271UCSCProteasome beta subunits C terminal

Gene Aliases

HGNC Name

proteasome 20S subunit beta 7

HGNC Previous Names

proteasome (prosome, macropain) subunit, beta type, 7; proteasome subunit beta 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002799.4

p.S5L

c.14C>T

Surrounding Variants

1 paper

NM_002799.4

p.V4V

c.12G>C

1 paper

NM_002799.4

p.V4V

c.12G>A

1 paper

NM_002799.4

p.G12A

c.35G>C

1 paper

NM_002799.4

p.E26K

c.76G>A

1 paper

NM_002799.4

p.A27T

c.79G>A

1 paper

NM_002799.4

p.F29fs

c.85_86fs

1 paper

NM_002799.4

p.D28delFs

c.84delA

1 paper

NM_002799.4

p.R32W

c.94A>T

12 papers

NM_002799.4

p.V39A

c.116T>C

1 paper

NM_002799.4

p.T44A

c.130A>G

2 papers

NM_002799.4

p.V49G

c.146T>G

1 paper

NM_002799.4

p.V56I

c.166G>A