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.C398R

c.1192T>C

Surrounding Variants

1 paper

NM_000312.4

p.C398S

c.1192T>A

1 paper

NM_000312.4

p.C398S

c.1193G>C

1 paper

NM_000312.4

p.A397V

c.1190C>T

1 paper

NM_000312.4

p.A397S

c.1189G>T

5 papers

NM_000312.4

p.G400S

c.1198G>A

2 papers

NM_000312.4

p.G400D

c.1199G>A

1 paper

NM_000312.4

p.G400V

c.1199G>T

1 paper

NM_000312.4

p.Q395P

c.1184A>C

1 paper

NM_000312.4

p.Q395*

c.1183C>T

7 papers

NM_000312.4

p.D401N

c.1201G>A

3 papers

NM_000312.4

p.R394Q

c.1181G>A

1 paper

NM_000312.4

p.S402fs

c.1204_1205fs