Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.S118delFs

PSMB8

178 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 69–251UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit beta 8

HGNC Previous Symbol

LMP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148919.4
p.S118delFs
c.353_354delAG
Surrounding Variants
2 papers
NM_148919.4
p.G119S
c.355G>A
1 paper
NM_148919.4
p.S118fs
c.352_353fs
6 papers
NM_148919.4
p.S118P
c.352T>C
9 papers
NM_148919.4
p.M117V
c.349A>G
1 paper
NM_148919.4
p.T116P
c.346A>C
1 paper
NM_148919.4
p.A122G
c.365C>G
2 papers
NM_004159.5
p.D119N
c.355G>A
NM_148919.4
p.D123N
c.367G>A
1 paper
NM_148919.4
p.Q125*
c.373C>T
2 papers
NM_148919.4
p.Q125P
c.374A>C
1 paper
NM_148919.4
p.N110delFs
c.330delG
2 papers
NM_004159.5
p.R125C
c.373C>T
NM_148919.4
p.R129C
c.385C>T
1 paper
NM_148919.4
p.L130fs
c.388_389fs
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