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.D209E

c.627T>G

Surrounding Variants

1 paper

NM_000312.4

p.D209E

c.627T>A

1 paper

NM_000312.4

p.P210R

c.629C>G

11 papers

NM_000312.4

p.P210L

c.629C>T

1 paper

NM_000312.4

p.D209N

c.625G>A

14 papers

NM_000312.4

p.R211W

c.631C>T

8 papers

NM_000312.4

p.R211Q

c.632G>A

1 paper

NM_000312.4

p.R211_L212delFs

c.633_634delGC

1 paper

NM_000312.4

p.L212F

c.634C>T

1 paper

NM_000312.4

p.L212fs

c.634_635fs

1 paper

NM_000312.4

p.Q207*

c.619C>T

1 paper

NM_000312.4

p.L212L

c.636C>A

4 papers

NM_000312.4

p.I213T

c.638T>C