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.E372G

c.1115A>G

Surrounding Variants

1 paper

NM_000312.4

p.E372K

c.1114G>A

1 paper

NM_000312.4

p.C373R

c.1117T>C

1 paper

NM_000312.4

p.N371T

c.1112A>C

3 papers

NM_000312.4

p.N371D

c.1111A>G

1 paper

NM_000312.4

p.S374G

c.1120A>G

1 paper

NM_000312.4

p.H370Q

c.1110C>A

1 paper

NM_000312.4

p.H370Q

c.1110C>G

1 paper

NM_000312.4

p.S374N

c.1121G>A

1 paper

NM_000312.4

p.H370fs

c.1108_1109fs

1 paper

NM_000312.4

p.E375K

c.1123G>A

6 papers

NM_000312.4

p.P369L

c.1106C>T

1 paper

NM_000312.4

p.P369delFs

c.1107delG