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.G341S

c.1021G>A

Surrounding Variants

6 papers

NM_000312.4

p.T340M

c.1019C>T

1 paper

NM_000312.4

p.W342C

c.1026G>C

1 paper

NM_000312.4

p.W342C

c.1026G>T

2 papers

NM_000312.4

p.V339A

c.1016T>C

25 papers

NM_000312.4

p.V339M

c.1015G>A

1 paper

NM_000312.4

p.G343R

c.1027G>C

1 paper

NM_000312.4

p.G343D

c.1028G>A

1 paper

NM_000312.4

p.G343A

c.1028G>C

1 paper

NM_000312.4

p.H345del1

c.1033_1034delCAC

1 paper

NM_000312.4

p.Y344*

c.1032C>A

1 paper

NM_000312.4

p.Y344*

c.1032C>G

1 paper

NM_000312.4

p.T337I

c.1010C>T