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.T167I

c.500C>T

Surrounding Variants

1 paper

NM_006287.6

p.T167A

c.499A>G

1 paper

NM_006287.6

p.F165L

c.493T>C

1 paper

NM_006287.6

p.E170G

c.509A>G

1 paper

NM_006287.6

p.N163N

c.489C>T

1 paper

NM_006287.6

p.G160G

c.480C>G

1 paper

NM_006287.6

p.G160A

c.479G>C

1 paper

NM_006287.6

p.I174I

c.522T>A

2 papers

NM_006287.6

p.P179Splc

c.535+1G>T

6 papers

NM_006287.6

p.R152H

c.455G>A

1 paper

NM_006287.6

p.E151A

c.452A>C

1 paper

NM_006287.6

p.K148N

c.444A>T

1 paper

NM_006287.6

p.K148N

c.444A>C