Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.L125insFs

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
1 paper
NM_001122752.2
p.L125insFs
c.373_374insG
Surrounding Variants
1 paper
NM_001122752.2
p.L125fs
c.373_374fs
1 paper
NM_001122752.2
p.M128L
c.382A>T
1 paper
NM_001122752.2
p.H119Q
c.357T>A
1 paper
NM_001122752.2
p.H119Q
c.357T>G
1 paper
NM_001122752.2
p.A134P
c.400G>C
1 paper
NM_001122752.2
p.V114A
c.341T>C
1 paper
NM_001122752.2
p.H138Q
c.414T>A
1 paper
NM_001122752.2
p.H138Q
c.414T>G
1 paper
NM_001122752.2
p.S142G
c.424A>G
1 paper
NM_001122752.2
p.K100N
c.300A>T
1 paper
NM_001122752.2
p.I151T
c.452T>C
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."