Varaico: Literature-Extracted Genetic Variants

PROC

463 papers

RefSeq Summary

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease...

Pfam Domains

Glaaa 47–87UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

FXa_inhibitionaa 140–175UCSCCoagulation Factor Xa inhibitory site

Trypsinaa 212–445UCSCTrypsin

Gene Aliases

HGNC Name

protein C, inactivator of coagulation factors Va and VIIIa

HGNC Previous Name

protein C (inactivator of coagulation factors Va and VIIIa)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 745 variants

54 papers

NM_000312.4

p.E191_K192del1

c.572_574delAGA

48 papers

NM_000312.4

p.R189W

c.565C>T

25 papers

NM_000312.4

p.V339M

c.1015G>A

18 papers

NM_000312.4

p.D297H

c.889G>C

17 papers

NM_000312.4

p.M406I

c.1218G>A

17 papers

NM_000312.4

p.M406I

c.1218G>C

17 papers

NM_000312.4

p.M406I

c.1218G>T

15 papers

NM_000312.4

p.F181V

c.541T>G

14 papers

NM_000312.4

p.R211W

c.631C>T

13 papers

NM_000312.4

p.R220Q

c.659G>A

11 papers

NM_000312.4

p.R57W

c.169C>T

11 papers

NM_000312.4

p.P210L

c.629C>T