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.E284del1

c.850_851delGAG

Surrounding Variants

2 papers

NM_000312.4

p.K283N

c.849G>C

1 paper

NM_000312.4

p.K283N

c.849G>T

1 paper

NM_000312.4

p.E284_V287del4

c.850_860del12

1 paper

NM_000312.4

p.I282N

c.845T>A

1 paper

NM_000312.4

p.I282V

c.844A>G

1 paper

NM_000312.4

p.E284delFs

c.851delA

1 paper

NM_000312.4

p.L280P

c.839T>C

1 paper

NM_000312.4

p.D279E

c.837C>A

1 paper

NM_000312.4

p.D279E

c.837C>G

1 paper

NM_000312.4

p.D279A

c.836A>C

2 papers

NM_000312.4

p.D279N

c.835G>A

1 paper

NM_000312.4

p.V287I

c.859G>A