Varaico: Literature-Extracted Genetic Variants

Gene:PSMF1
Variant:p.S10P

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.S10P
c.28T>C
Surrounding Variants
1 paper
NM_006814.5
p.L7M
c.19C>A
1 paper
NM_006814.5
p.L4L
c.12G>A
1 paper
NM_006814.5
p.L4L
c.12G>C
1 paper
NM_006814.5
p.M1L
c.1A>T
1 paper
NM_006814.5
p.C24F
c.71G>T
1 paper
NM_006814.5
p.V31G
c.92T>G
1 paper
NM_006814.5
p.G34delFs
c.101delG
1 paper
NM_006814.5
p.G34fs
c.100_101fs
2 papers
NM_006814.5
p.F36C
c.107T>G
1 paper
NM_006814.5
p.Q43_P44Splc
c.129+2T>C
1 paper
NM_006814.5
p.L53M
c.157C>A
1 paper
NM_006814.5
p.R68W
c.202C>T
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