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.E48K

c.142G>A

Surrounding Variants

1 paper

NM_000312.4

p.L47V

c.139C>G

1 paper

NM_000312.4

p.E49Q

c.145G>C

1 paper

NM_000312.4

p.F46fs

c.136_137fs

1 paper

NM_000312.4

p.F46delFs

c.137delT

1 paper

NM_000312.4

p.L50H

c.149T>A

3 papers

NM_000312.4

p.R51C

c.151C>T

1 paper

NM_000312.4

p.S45P

c.133T>C

2 papers

NM_000312.4

p.R51H

c.152G>A

1 paper

NM_000312.4

p.N44S

c.131A>G

1 paper

NM_000312.4

p.N44I

c.131A>T

4 papers

NM_000312.4

p.A43T

c.127G>A

10 papers

NM_000312.4

p.R42H

c.125G>A