Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF2
Variant:p.R252I

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
2 papers
NM_000934.4
p.R252I
c.755G>T
Surrounding Variants
1 paper
NM_000934.4
p.S254P
c.760T>C
1 paper
NM_000934.4
p.P247P
c.741G>A
1 paper
NM_000934.4
p.T262M
c.785C>T
1 paper
NM_000934.4
p.R242K
c.725G>A
1 paper
NM_000934.4
p.W241*
c.723G>A
1 paper
NM_000934.4
p.W241*
c.722G>A
1 paper
NM_000934.4
p.P264R
c.791C>G
1 paper
NM_000934.4
p.M267I
c.801G>A
1 paper
NM_000934.4
p.T272T
c.816G>A
1 paper
NM_000934.4
p.R276H
c.827G>A
1 paper
NM_000934.4
p.E225*
c.673G>T
1 paper
NM_000934.4
p.P224L
c.671C>T
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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."