Varaico: Literature-Extracted Genetic Variants

TFPI

507 papers

RefSeq Summary

This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor...

Pfam Domains

Kunitz_BPTIaa 53–105UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 124–176UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 216–268UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

tissue factor pathway inhibitor

HGNC Previous Symbol

LACI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006287.6

p.F124L

c.372C>A

Surrounding Variants

2 papers

NM_006287.6

p.C125_F126insFs

c.375_376insGA

10 papers

NM_006287.6

p.F126I

c.376T>A

1 paper

NM_006287.6

p.K121Q

c.361A>C

1 paper

NM_006287.6

p.P131S

c.391C>T

1 paper

NM_006287.6

p.C134F

c.401G>T

1 paper

NM_006287.6

p.R135*

c.403C>T

1 paper

NM_006287.6

p.E120Splc

c.359-33A>G

1 paper

NM_006287.6

p.F142Y

c.425T>A

1 paper

NM_006287.6

p.N144K

c.432C>G

1 paper

NM_006287.6

p.F142_N145del4

c.424_434del12

2 papers

NM_006287.6

p.Q146Q

c.438G>A

1 paper

NM_006287.6

p.T147A

c.439A>G