Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.S52R

SERPINI1

183 papers

RefSeq Summary

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type p...

Pfam Domains

Serpinaa 24–397UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family I member 1

HGNC Previous Symbol

PI12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
59 papers
NM_001122752.2
p.S52R
c.154A>C
Surrounding Variants
59 papers
NM_001122752.2
p.S52R
c.156T>A
59 papers
NM_001122752.2
p.S52R
c.156T>G
1 paper
NM_001122752.2
p.L51insFs
c.151_152insC
1 paper
NM_001122752.2
p.P50S
c.148C>T
1 paper
NM_001122752.2
p.A54V
c.161C>T
1 paper
NM_001122752.2
p.S49C
c.146C>G
61 papers
NM_001122752.2
p.S49P
c.145T>C
1 paper
NM_001122752.2
p.S49A
c.145T>G
8 papers
NM_001122752.2
p.L55P
c.164T>C
1 paper
NM_001122752.2
p.F48S
c.143T>C
1 paper
NM_001122752.2
p.A56T
c.166G>A
13 papers
NM_001122752.2
p.L47P
c.140T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."