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

4 papers

NM_000312.4

p.R32C

c.94C>T

Surrounding Variants

1 paper

NM_000312.4

p.R32R

c.96T>C

3 papers

NM_000312.4

p.A33T

c.97G>A

1 paper

NM_000312.4

p.E31K

c.91G>A

1 paper

NM_000312.4

p.Q35Q

c.105G>A

1 paper

NM_000312.4

p.S28delFs

c.84delC

1 paper

NM_000312.4

p.S28fs

c.82_83fs

1 paper

NM_000312.4

p.V36insFs

c.108dupG

1 paper

NM_000312.4

p.F27fs

c.79_80fs

3 papers

NM_000312.4

p.R38W

c.112C>T

3 papers

NM_000312.4

p.V26M

c.76G>A

1 paper

NM_000312.4

p.S25S

c.75A>G

1 paper

NM_000312.4

p.R38Q

c.113G>A