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

19 papers

NM_006287.6

p.L11L

c.33T>C

Surrounding Variants

2 papers

NM_006287.6

p.L11_W12insFs

c.33_34ins4

1 paper

NM_006287.6

p.W12C

c.36G>C

1 paper

NM_006287.6

p.A13insFs

c.38_39insG

1 paper

NM_006287.6

p.H9Q

c.27T>A

1 paper

NM_006287.6

p.C16C

c.48C>T

1 paper

NM_006287.6

p.L17M

c.49C>A

1 paper

NM_006287.6

p.L18P

c.53T>C

1 paper

NM_006287.6

p.M5V

c.13A>G

1 paper

NM_006287.6

p.T4T

c.12A>G

1 paper

NM_006287.6

p.I2I

c.6T>C

2 papers

NM_006287.6

p.N20K

c.60T>A

1 paper

NM_006287.6

p.M1del1

c.1_2delCAT