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.A65V

c.194C>T

Surrounding Variants

1 paper

NM_006287.6

p.A65G

c.194C>G

1 paper

NM_006287.6

p.A65S

c.193G>T

2 papers

NM_006287.6

p.K68*

c.202A>T

1 paper

NM_006287.6

p.G61C

c.181G>T

1 paper

NM_006287.6

p.D60A

c.179A>C

1 paper

NM_006287.6

p.K68_F70del3

c.202_209del9

1 paper

NM_006287.6

p.F71delFs

c.211_212delAA

1 paper

NM_006287.6

p.A58A

c.174G>T

2 papers

NM_006287.6

p.A58A

c.174G>C

1 paper

NM_006287.6

p.A58P

c.172G>C

1 paper

NM_006287.6

p.F56Y

c.167T>A

1 paper

NM_006287.6

p.A55V

c.164C>T