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.Q332*

c.994C>T

Surrounding Variants

1 paper

NM_000312.4

p.Q332L

c.995A>T

3 papers

NM_000312.4

p.A333T

c.997G>A

1 paper

NM_000312.4

p.A333A

c.999C>A

1 paper

NM_000312.4

p.L330F

c.988C>T

3 papers

NM_000312.4

p.G334S

c.1000G>A

1 paper

NM_000312.4

p.Q335*

c.1003C>T

3 papers

NM_000312.4

p.R328H

c.983G>A

1 paper

NM_000312.4

p.Q335H

c.1005G>C

1 paper

NM_000312.4

p.Q335H

c.1005G>T

2 papers

NM_000312.4

p.R328C

c.982C>T

2 papers

NM_000312.4

p.E327V

c.980A>T

1 paper

NM_000312.4

p.E327_E329delFs

c.981_985del5