Varaico: Literature-Extracted Genetic Variants

Gene:PSMF1
Variant:p.R122Splc

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.R122Splc
c.365+2T>C
Surrounding Variants
1 paper
NM_006814.5
p.L106M
c.316C>A
1 paper
NM_006814.5
p.L94_E95Splc
c.282+5G>A
1 paper
NM_006814.5
p.L94_E95Splc
c.282+2T>A
1 paper
NM_006814.5
p.S75F
c.224C>T
1 paper
NM_006814.5
p.R68W
c.202C>T
1 paper
NM_006814.5
p.L53M
c.157C>A
1 paper
NM_006814.5
p.S127_I134delFs
c.380_401del22
1 paper
NM_006814.5
p.E128K
c.382G>A
1 paper
NM_006814.5
p.I139V
c.415A>G
1 paper
NM_006814.5
p.I142L
c.424A>C
1 paper
NM_006814.5
p.R156Q
c.467G>A
1 paper
NM_006814.5
p.F158I
c.472T>A
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