Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1

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
1–12 of 109 variants
61 papers
NM_001122752.2
p.S49P
c.145T>C
59 papers
NM_001122752.2
p.S52R
c.154A>C
59 papers
NM_001122752.2
p.S52R
c.156T>A
59 papers
NM_001122752.2
p.S52R
c.156T>G
57 papers
NM_001122752.2
p.G392E
c.1175G>A
43 papers
NM_001122752.2
p.H338R
c.1013A>G
26 papers
NM_001122752.2
p.G392R
c.1174G>A
26 papers
NM_001122752.2
p.G392R
c.1174G>C
13 papers
NM_001122752.2
p.L47P
c.140T>C
8 papers
NM_001122752.2
p.L55P
c.164T>C
5 papers
NM_001122752.2
p.A280T
c.838G>A
3 papers
NM_001122752.2
p.V97I
c.289G>A
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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."