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.Q183E

c.547C>G

Surrounding Variants

2 papers

NM_006287.6

p.F182F

c.546C>T

1 paper

NM_006287.6

p.Q183H

c.549G>T

1 paper

NM_006287.6

p.Q183H

c.549G>C

1 paper

NM_006287.6

p.G181V

c.542G>T

1 paper

NM_006287.6

p.N180insFs

c.540dupT

1 paper

NM_006287.6

p.D185A

c.554A>C

1 paper

NM_006287.6

p.D185del1

c.553_554delATC

24 papers

NM_006287.6

p.P179L

c.536C>T

1 paper

NM_006287.6

p.T189T

c.567C>T

1 paper

NM_006287.6

p.L191insFs

c.572_573ins4

1 paper

NM_006287.6

p.N192del1

c.574_576delATT

2 papers

NM_006287.6

p.A193V

c.578C>T