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.R40L

c.119G>T

Surrounding Variants

3 papers

NM_000312.4

p.R40H

c.119G>A

8 papers

NM_000312.4

p.R40C

c.118C>T

1 paper

NM_000312.4

p.K41E

c.121A>G

3 papers

NM_000312.4

p.K41*

c.121A>T

1 paper

NM_000312.4

p.K41N

c.123A>C

1 paper

NM_000312.4

p.K41N

c.123A>T

5 papers

NM_000312.4

p.R42S

c.124C>A

7 papers

NM_000312.4

p.R42C

c.124C>T

10 papers

NM_000312.4

p.R42H

c.125G>A

1 paper

NM_000312.4

p.R38Q

c.113G>A

1 paper

NM_000312.4

p.R42P

c.125G>C

1 paper

NM_000312.4

p.R42L

c.125G>T