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.E349delFs

c.1047delG

Surrounding Variants

1 paper

NM_000312.4

p.E349D

c.1047G>C

1 paper

NM_000312.4

p.E349D

c.1047G>T

1 paper

NM_000312.4

p.K350E

c.1048A>G

2 papers

NM_000312.4

p.R348R

c.1044A>T

2 papers

NM_000312.4

p.K350*

c.1048A>T

1 paper

NM_000312.4

p.E349_A352del4

c.1045_1055del12

1 paper

NM_000312.4

p.K350T

c.1049A>C

2 papers

NM_000312.4

p.R348Q

c.1043G>A

5 papers

NM_000312.4

p.R348*

c.1042C>T

1 paper

NM_000312.4

p.Y344*

c.1032C>A

1 paper

NM_000312.4

p.Y344*

c.1032C>G

1 paper

NM_000312.4

p.H345del1

c.1033_1034delCAC