Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.H338Q

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.H338Q
c.1014C>G
Surrounding Variants
1 paper
NM_001122752.2
p.H338Q
c.1014C>A
43 papers
NM_001122752.2
p.H338R
c.1013A>G
1 paper
NM_001122752.2
p.F341L
c.1021T>C
1 paper
NM_001122752.2
p.F341L
c.1023C>A
1 paper
NM_001122752.2
p.F341L
c.1023C>G
1 paper
NM_001122752.2
p.N345K
c.1035T>A
1 paper
NM_001122752.2
p.N345K
c.1035T>G
1 paper
NM_001122752.2
p.S349*
c.1046C>A
1 paper
NM_001122752.2
p.S349*
c.1046C>G
1 paper
NM_001122752.2
p.A352V
c.1055C>T
1 paper
NM_001122752.2
p.G356Splc
c.1067-279C>A
1 paper
NM_001122752.2
p.M357K
c.1070T>A
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