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

8 papers

NM_006287.6

p.T40I

c.119C>T

Surrounding Variants

1 paper

NM_006287.6

p.D41Splc

c.121+2T>C

1 paper

NM_006287.6

p.I38_I39insG

c.112_116ins3

1 paper

NM_006287.6

p.E35_H36delFs

c.104_107del4

1 paper

NM_006287.6

p.E35D

c.105A>T

1 paper

NM_006287.6

p.E35D

c.105A>C

1 paper

NM_006287.6

p.E35K

c.103G>A

1 paper

NM_006287.6

p.E34*

c.100G>T

1 paper

NM_006287.6

p.E31del1

c.91_92delCTC

1 paper

NM_006287.6

p.E31E

c.93G>A

2 papers

NM_006287.6

p.S30insFs

c.89_90insG

1 paper

NM_006287.6

p.D29insFs

c.86_87insA

1 paper

NM_006287.6

p.A24_D29delFs

c.70_85del16