Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.I251T

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.I251T
c.752T>C
Surrounding Variants
1 paper
NM_001122752.2
p.M254V
c.760A>G
1 paper
NM_001122752.2
p.R259_K272del14
c.775_815del42
1 paper
NM_001122752.2
p.L242V
c.724C>G
1 paper
NM_001122752.2
p.P263S
c.787C>T
1 paper
NM_001122752.2
p.V271_A273del0
c.813_818del6
1 paper
NM_001122752.2
p.W279_A280del0
c.835_840del6
5 papers
NM_001122752.2
p.A280T
c.838G>A
1 paper
NM_001122752.2
p.K285T
c.854A>C
1 paper
NM_001122752.2
p.V288I
c.862G>A
1 paper
NM_001122752.2
p.E289A
c.866A>C
1 paper
NM_001122752.2
p.Y225C
c.674A>G
1 paper
NM_001122752.2
p.M216I
c.648G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."