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.K277E

c.829A>G

Surrounding Variants

1 paper

NM_006287.6

p.S276L

c.827C>T

1 paper

NM_006287.6

p.I281T

c.842T>C

3 papers

NM_006287.6

p.G270Splc

c.809-1G>C

2 papers

NM_006287.6

p.G270Splc

c.809-1G>A

1 paper

NM_006287.6

p.K277_T283insFs

c.831_849dup19

1 paper

NM_006287.6

p.K289K

c.867G>A

1 paper

NM_006287.6

p.K289delFs

c.867delC

1 paper

NM_006287.6

p.G270Splc

c.809-22T>G

1 paper

NM_006287.6

p.R291insFs

c.871_872insT

7 papers

NM_006287.6

p.V292M

c.874G>A

1 paper

NM_006287.6

p.K293T

c.878A>C

1 paper

NM_006287.6

p.A295V

c.884C>T