Varaico: Literature-Extracted Genetic Variants

Gene:TFPI2
Variant:p.R222C

TFPI2

295 papers

RefSeq Summary

This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin...

Pfam Domains

Kunitz_BPTIaa 35–87UCSCKunitz/Bovine pancreatic trypsin inhibitor domain
Kunitz_BPTIaa 95–150UCSCKunitz/Bovine pancreatic trypsin inhibitor domain
Kunitz_BPTIaa 157–209UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

tissue factor pathway inhibitor 2

HGNC Alias Symbols

PP5; TFPI-2; REF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006528.4
p.R222C
c.664C>T
Surrounding Variants
1 paper
NM_006528.4
p.L221delFs
c.663delA
1 paper
NM_006528.4
p.F223S
c.668T>C
1 paper
NM_006528.4
p.P219L
c.656C>T
1 paper
NM_006528.4
p.S225N
c.674G>A
1 paper
NM_006528.4
p.K232*
c.694A>T
1 paper
NM_006528.4
p.A211Splc
c.631+113C>T
1 paper
NM_006528.4
p.C208Y
c.623G>A
1 paper
NM_006528.4
p.R206L
c.617G>T
1 paper
NM_006528.4
p.G193E
c.578G>A
1 paper
NM_006528.4
p.G190fs
c.568_569fs
2 papers
NM_006528.4
p.T189T
c.567T>C
1 paper
NM_006528.4
p.Y188C
c.563A>G
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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."