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

2 papers

NM_006528.4

p.R5H

c.14G>A

Surrounding Variants

2 papers

NM_006528.4

p.R5L

c.14G>T

1 paper

NM_006528.4

p.A4G

c.11C>G

2 papers

NM_006528.4

p.P6P

c.18C>A

1 paper

NM_006528.4

p.L7insFs

c.19dupC

1 paper

NM_006528.4

p.L7fs

c.19_20fs

1 paper

NM_006528.4

p.M1I

c.3G>T

1 paper

NM_006528.4

p.M1insFs

c.2dupT

1 paper

NM_006528.4

p.S10L

c.29C>T

1 paper

NM_006528.4

p.L12delFs

c.35delA

1 paper

NM_006528.4

p.L13Q

c.38T>A

1 paper

NM_006528.4

p.F15Y

c.44T>A

1 paper

NM_006528.4

p.T29delFs

c.85delT