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.R356delFs

c.1066delC

Surrounding Variants

1 paper

NM_000312.4

p.N355S

c.1064A>G

3 papers

NM_000312.4

p.R356C

c.1066C>T

1 paper

NM_000312.4

p.R356fs

c.1066_1067fs

1 paper

NM_000312.4

p.R356L

c.1067G>T

1 paper

NM_000312.4

p.T357A

c.1069A>G

1 paper

NM_000312.4

p.V359I

c.1075G>A

1 paper

NM_000312.4

p.V359F

c.1075G>T

1 paper

NM_000312.4

p.N361_I363del0

c.1082_1087del6

1 paper

NM_000312.4

p.K350T

c.1049A>C

1 paper

NM_000312.4

p.K350E

c.1048A>G

2 papers

NM_000312.4

p.K350*

c.1048A>T

1 paper

NM_000312.4

p.N361D

c.1081A>G