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.E210Splc

c.629-1G>A

Surrounding Variants

1 paper

NM_006287.6

p.F211_H212del2

c.631_635del6

1 paper

NM_006287.6

p.E210Splc

c.629-33T>C

2 papers

NM_006287.6

p.A221V

c.662C>T

1 paper

NM_006287.6

p.R227L

c.680G>T

1 paper

NM_006287.6

p.A228S

c.682G>T

1 paper

NM_006287.6

p.Y234Y

c.702C>T

1 paper

NM_006287.6

p.C242F

c.725G>T

1 paper

NM_006287.6

p.R243C

c.727C>T

1 paper

NM_006287.6

p.F245L

c.733T>C

1 paper

NM_006287.6

p.S248R

c.742A>C

1 paper

NM_006287.6

p.S248R

c.744T>G

1 paper

NM_006287.6

p.S248R

c.744T>A