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

5 papers

NM_000312.4

p.E67K

c.199G>A

Surrounding Variants

2 papers

NM_000312.4

p.E67A

c.200A>C

2 papers

NM_000312.4

p.E68K

c.202G>A

1 paper

NM_000312.4

p.E68A

c.203A>C

4 papers

NM_000312.4

p.C64W

c.192T>G

1 paper

NM_000312.4

p.A69A

c.207C>G

1 paper

NM_000312.4

p.K70delFs

c.209delA

1 paper

NM_000312.4

p.C64Y

c.191G>A

1 paper

NM_000312.4

p.K70E

c.208A>G

1 paper

NM_000312.4

p.K70fs

c.208_209fs

2 papers

NM_000312.4

p.C64R

c.190T>C

1 paper

NM_000312.4

p.C64G

c.190T>G

1 paper

NM_000312.4

p.K70R

c.209A>G