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.W225C

c.675G>T

Surrounding Variants

1 paper

NM_000312.4

p.W225C

c.675G>C

1 paper

NM_000312.4

p.Q226*

c.676C>T

1 paper

NM_000312.4

p.Q226R

c.677A>G

3 papers

NM_000312.4

p.Q226L

c.677A>T

2 papers

NM_000312.4

p.W225R

c.673T>A

3 papers

NM_000312.4

p.W225R

c.673T>C

1 paper

NM_000312.4

p.Q226Q

c.678G>A

1 paper

NM_000312.4

p.Q226H

c.678G>C

1 paper

NM_000312.4

p.Q226H

c.678G>T

4 papers

NM_000312.4

p.S223R

c.669C>A

2 papers

NM_000312.4

p.S223R

c.669C>G

2 papers

NM_000312.4

p.S223R

c.667A>C