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.R51H

c.152G>A

Surrounding Variants

3 papers

NM_000312.4

p.R51C

c.151C>T

1 paper

NM_000312.4

p.L50H

c.149T>A

1 paper

NM_000312.4

p.E49Q

c.145G>C

1 paper

NM_000312.4

p.S54G

c.160A>G

2 papers

NM_000312.4

p.S54C

c.160A>T

1 paper

NM_000312.4

p.E48K

c.142G>A

1 paper

NM_000312.4

p.L47V

c.139C>G

1 paper

NM_000312.4

p.L55L

c.165G>C

1 paper

NM_000312.4

p.E56V

c.167A>T

1 paper

NM_000312.4

p.E56D

c.168G>C

1 paper

NM_000312.4

p.E56D

c.168G>T

1 paper

NM_000312.4

p.R57_I60del4

c.169_179del12