Varaico: Literature-Extracted Genetic Variants

Gene:SERPINE2
Variant:p.G386Splc

SERPINE2

200 papers

RefSeq Summary

This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member...

Pfam Domains

Serpinaa 29–398UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family E member 2

HGNC Previous Symbol

PI7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136528.2
p.G386Splc
c.1156+111A>G
Surrounding Variants
1 paper
NM_001136528.2
p.R381Q
c.1142G>A
1 paper
NM_001136528.2
p.F378_F379del2
c.1132_1136del6
1 paper
NM_001136528.2
p.F379L
c.1137C>G
1 paper
NM_001136528.2
p.F379L
c.1137C>A
1 paper
NM_001136528.2
p.F379L
c.1135T>C
1 paper
NM_001136528.2
p.P375A
c.1123C>G
1 paper
NM_001136528.2
p.S365T
c.1093T>A
1 paper
NM_001136528.2
p.R364K
c.1091G>A
1 paper
NM_001136528.2
p.G392R
c.1174G>C
1 paper
NM_001136528.2
p.G392R
c.1174G>A
2 papers
NM_001136528.2
p.G392E
c.1175G>A
2 papers
NM_001136528.2
p.N395K
c.1185C>G
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