Varaico: Literature-Extracted Genetic Variants

Gene:PSMF1
Variant:p.G255R

PSMF1

37 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

PI31_Prot_Naa 11–149UCSCPI31 proteasome regulator N-terminal
PI31_Prot_Caa 155–248UCSCPI31 proteasome regulator

Gene Aliases

HGNC Name

proteasome inhibitor subunit 1

HGNC Alias Symbol

PI31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006814.5
p.G255R
c.763G>A
Surrounding Variants
1 paper
NM_006814.5
p.G255R
c.763G>C
1 paper
NM_006814.5
p.G255Splc
c.764+5G>A
1 paper
NM_006814.5
p.G250V
c.749G>T
1 paper
NM_006814.5
p.G250W
c.748G>T
2 papers
NM_006814.5
p.R242H
c.725G>A
1 paper
NM_006814.5
p.R242G
c.724C>G
1 paper
NM_006814.5
p.R242C
c.724C>T
1 paper
NM_006814.5
p.R231*
c.691C>T
1 paper
NM_006814.5
p.P229P
c.687G>A
1 paper
NM_006814.5
p.L228V
c.682C>G
2 papers
NM_006814.5
p.P224L
c.671C>T
1 paper
NM_006814.5
p.P263L
c.788C>T
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