Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_006528.4

p.E70K

c.208G>A

Surrounding Variants

1 paper

NM_006528.4

p.G67R

c.199G>C

1 paper

NM_006528.4

p.G67R

c.199G>A

1 paper

NM_006528.4

p.Y66*

c.198C>G

1 paper

NM_006528.4

p.Y66*

c.198C>A

1 paper

NM_006528.4

p.A73A

c.219C>G

1 paper

NM_006528.4

p.L65P

c.194T>C

1 paper

NM_006528.4

p.N75delFs

c.225delA

1 paper

NM_006528.4

p.W79del1

c.235_237delCCA

1 paper

NM_006528.4

p.D83V

c.248A>T

1 paper

NM_006528.4

p.R56insFs

c.166dupA

3 papers

NM_006528.4

p.R56K

c.167G>A

1 paper

NM_006528.4

p.R56fs

c.166_167fs