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.N255S

c.764A>G

Surrounding Variants

1 paper

NM_006287.6

p.N255D

c.763A>G

1 paper

NM_006287.6

p.F257L

c.771T>A

1 paper

NM_006287.6

p.G252V

c.755G>T

1 paper

NM_006287.6

p.T258I

c.773C>T

3 papers

NM_006287.6

p.G251V

c.752G>T

1 paper

NM_006287.6

p.S259C

c.776C>G

1 paper

NM_006287.6

p.S248R

c.744T>G

1 paper

NM_006287.6

p.S248R

c.744T>A

2 papers

NM_006287.6

p.E262K

c.784G>A

1 paper

NM_006287.6

p.S248R

c.742A>C

1 paper

NM_006287.6

p.L264L

c.790C>T

1 paper

NM_006287.6

p.F245L

c.733T>C