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

Selected Variant

1 paper

NM_000312.4

p.V407A

c.1220T>C

Surrounding Variants

1 paper

NM_000312.4

p.V407F

c.1219G>T

17 papers

NM_000312.4

p.M406I

c.1218G>A

3 papers

NM_000312.4

p.A408T

c.1222G>A

17 papers

NM_000312.4

p.M406I

c.1218G>C

1 paper

NM_000312.4

p.M406_V407insFs

c.1218_1219insA

17 papers

NM_000312.4

p.M406I

c.1218G>T

1 paper

NM_000312.4

p.M406T

c.1217T>C

2 papers

NM_000312.4

p.M406V

c.1216A>G

1 paper

NM_000312.4

p.M406fs

c.1216_1217fs

1 paper

NM_000312.4

p.P405S

c.1213C>T

3 papers

NM_000312.4

p.P405fs

c.1213_1214fs

1 paper

NM_000312.4

p.P405delFs

c.1215delC