Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.N110delFs

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.N110delFs
c.330delG
Surrounding Variants
1 paper
NM_148919.4
p.T116P
c.346A>C
9 papers
NM_148919.4
p.M117V
c.349A>G
6 papers
NM_148919.4
p.S118P
c.352T>C
12 papers
NM_148919.4
p.K105Q
c.313A>C
1 paper
NM_148919.4
p.S118fs
c.352_353fs
2 papers
NM_148919.4
p.G119S
c.355G>A
1 paper
NM_148919.4
p.S118delFs
c.353_354delAG
1 paper
NM_148919.4
p.R102L
c.305G>T
1 paper
NM_148919.4
p.R102W
c.304C>T
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
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