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.S323N

c.968G>A

Surrounding Variants

1 paper

NM_000312.4

p.S323fs

c.967_968fs

10 papers

NM_000312.4

p.G324S

c.970G>A

1 paper

NM_000312.4

p.S323_E327delFs

c.969_979del11

2 papers

NM_000312.4

p.L325I

c.973C>A

1 paper

NM_000312.4

p.P321P

c.963G>A

2 papers

NM_000312.4

p.P321Q

c.962C>A

5 papers

NM_000312.4

p.P321L

c.962C>T

1 paper

NM_000312.4

p.P321S

c.961C>T

1 paper

NM_000312.4

p.L320P

c.959T>C

1 paper

NM_000312.4

p.L320R

c.959T>G

1 paper

NM_000312.4

p.L320_P321insGC

c.958_962ins6

1 paper

NM_000312.4

p.E327K

c.979G>A