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.Y84F

c.251A>T

Surrounding Variants

1 paper

NM_006287.6

p.I83I

c.249A>T

1 paper

NM_006287.6

p.F70_G85del16

c.208_254del48

1 paper

NM_006287.6

p.G86E

c.257G>A

1 paper

NM_006287.6

p.C87S

c.259T>A

3 papers

NM_006287.6

p.E80K

c.238G>A

1 paper

NM_006287.6

p.G89R

c.265G>C

7 papers

NM_006287.6

p.T76I

c.227C>T

1 paper

NM_006287.6

p.F71delFs

c.211_212delAA

1 paper

NM_006287.6

p.K68_F70del3

c.202_209del9

1 paper

NM_006287.6

p.Q91_L97del0

c.271_291del21

2 papers

NM_006287.6

p.K68*

c.202A>T

1 paper

NM_006287.6

p.K101*

c.301A>T