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

9 papers

NM_000312.4

p.R272C

c.814C>T

Surrounding Variants

1 paper

NM_000312.4

p.R271Q

c.812G>A

1 paper

NM_000312.4

p.R271L

c.812G>T

6 papers

NM_000312.4

p.R271W

c.811C>T

1 paper

NM_000312.4

p.W273*

c.818G>A

1 paper

NM_000312.4

p.W273*

c.819G>A

1 paper

NM_000312.4

p.E274K

c.820G>A

2 papers

NM_000312.4

p.E274*

c.820G>T

2 papers

NM_000312.4

p.D269D

c.807C>T

2 papers

NM_000312.4

p.D269H

c.805G>C

1 paper

NM_000312.4

p.D269Y

c.805G>T

1 paper

NM_000312.4

p.Y268C

c.803A>G

1 paper

NM_000312.4

p.Y268H

c.802T>C