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

2 papers

NM_000312.4

p.G404delFs

c.1212delG

Surrounding Variants

3 papers

NM_000312.4

p.G404insFs

c.1212dupG

4 papers

NM_000312.4

p.G403R

c.1207G>A

1 paper

NM_000312.4

p.S402N

c.1205G>A

3 papers

NM_000312.4

p.G403R

c.1207G>C

2 papers

NM_000312.4

p.G403W

c.1207G>T

1 paper

NM_000312.4

p.S402delFs

c.1206delT

1 paper

NM_000312.4

p.S402fs

c.1204_1205fs

2 papers

NM_000312.4

p.S402G

c.1204A>G

7 papers

NM_000312.4

p.D401N

c.1201G>A

1 paper

NM_000312.4

p.G404E

c.1211G>A

1 paper

NM_000312.4

p.G404V

c.1211G>T

1 paper

NM_000312.4

p.P405delFs

c.1215delC