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

2 papers

NM_006287.6

p.Q201Q

c.603A>G

Surrounding Variants

1 paper

NM_006287.6

p.P200P

c.600G>A

2 papers

NM_006287.6

p.T203T

c.609C>T

1 paper

NM_006287.6

p.L198M

c.592C>A

1 paper

NM_006287.6

p.P206A

c.616C>G

1 paper

NM_006287.6

p.S207C

c.619A>T

1 paper

NM_006287.6

p.S207T

c.620G>C

1 paper

NM_006287.6

p.N196D

c.586A>G

1 paper

NM_006287.6

p.F209S

c.626T>C

2 papers

NM_006287.6

p.A193V

c.578C>T

1 paper

NM_006287.6

p.E210Splc

c.628+1G>T

1 paper

NM_006287.6

p.N192del1

c.574_576delATT

1 paper

NM_006287.6

p.L191insFs

c.572_573ins4