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.S195T

c.584G>C

Surrounding Variants

1 paper

NM_000312.4

p.S195C

c.583A>T

1 paper

NM_000312.4

p.S195_H196del1

c.584_586delGTC

3 papers

NM_000312.4

p.R194H

c.581G>A

5 papers

NM_000312.4

p.R194C

c.580C>T

2 papers

NM_000312.4

p.L197L

c.589C>T

1 paper

NM_000312.4

p.L197P

c.590T>C

2 papers

NM_000312.4

p.K193Q

c.577A>C

1 paper

NM_000312.4

p.K192E

c.574A>G

1 paper

NM_000312.4

p.R199R

c.595C>A

8 papers

NM_000312.4

p.R199*

c.595C>T

3 papers

NM_000312.4

p.K192ins0

c.574_576dupAAG

54 papers

NM_000312.4

p.E191_K192del1

c.572_574delAGA