Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF2
Variant:p.E225*

SERPINF2

130 papers

RefSeq Summary

This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper f...

Pfam Domains

Serpinaa 84–436UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family F member 2

HGNC Previous Symbol

PLI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000934.4
p.E225*
c.673G>T
Surrounding Variants
1 paper
NM_000934.4
p.P224L
c.671C>T
1 paper
NM_000934.4
p.V208V
c.624G>A
2 papers
NM_000934.4
p.A202V
c.605C>T
1 paper
NM_000934.4
p.E176_D177del1
c.528_530delAGA
1 paper
NM_000934.4
p.K170*
c.508A>T
1 paper
NM_000934.4
p.L168Q
c.503T>A
2 papers
NM_000934.4
p.R161*
c.481C>T
1 paper
NM_000934.4
p.A159G
c.476C>G
3 papers
NM_000934.4
p.C152Y
c.455G>A
1 paper
NM_000934.4
p.R150P
c.449G>C
1 paper
NM_000934.4
p.G139V
c.416G>T
1 paper
NM_000934.4
p.A138T
c.412G>A
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