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

18 papers

NM_000312.4

p.D297H

c.889G>C

Surrounding Variants

1 paper

NM_000312.4

p.D297N

c.889G>A

2 papers

NM_000312.4

p.D297D

c.891C>T

1 paper

NM_000312.4

p.N298D

c.892A>G

1 paper

NM_000312.4

p.T295I

c.884C>T

2 papers

NM_000312.4

p.S294N

c.881G>A

1 paper

NM_000312.4

p.S294fs

c.880_881fs

1 paper

NM_000312.4

p.I300F

c.898A>T

1 paper

NM_000312.4

p.K293delFs

c.879delG

6 papers

NM_000312.4

p.A301T

c.901G>A

2 papers

NM_000312.4

p.A301S

c.901G>T

2 papers

NM_000312.4

p.A301V

c.902C>T

1 paper

NM_000312.4

p.K293delFs

c.878delA