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

3 papers

NM_000312.4

p.L386P

c.1157T>C

Surrounding Variants

1 paper

NM_000312.4

p.C387Y

c.1160G>A

1 paper

NM_000312.4

p.M385T

c.1154T>C

1 paper

NM_000312.4

p.M385V

c.1153A>G

1 paper

NM_000312.4

p.C387C

c.1161T>C

4 papers

NM_000312.4

p.N384K

c.1152C>A

4 papers

NM_000312.4

p.N384K

c.1152C>G

2 papers

NM_000312.4

p.N384S

c.1151A>G

1 paper

NM_000312.4

p.A388E

c.1163C>A

4 papers

NM_000312.4

p.A388V

c.1163C>T

1 paper

NM_000312.4

p.G389S

c.1165G>A

2 papers

NM_000312.4

p.E383fs

c.1147_1148fs

2 papers

NM_000312.4

p.S382delFs

c.1146delT