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

4 papers

NM_006287.6

p.K48I

c.143A>T

Surrounding Variants

1 paper

NM_006287.6

p.K48N

c.144A>T

1 paper

NM_006287.6

p.L47L

c.141G>A

1 paper

NM_006287.6

p.L49P

c.146T>C

1 paper

NM_006287.6

p.K48_L49delFs

c.142_145del4

1 paper

NM_006287.6

p.M50L

c.148A>T

1 paper

NM_006287.6

p.P46L

c.137C>T

1 paper

NM_006287.6

p.P46S

c.136C>T

2 papers

NM_006287.6

p.P45L

c.134C>T

1 paper

NM_006287.6

p.P45T

c.133C>A

1 paper

NM_006287.6

p.S52P

c.154T>C

1 paper

NM_006287.6

p.E43K

c.127G>A

2 papers

NM_006287.6

p.C54S

c.161G>C