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.G215E

c.644G>A

Surrounding Variants

1 paper

NM_000312.4

p.G215R

c.643G>A

1 paper

NM_000312.4

p.G215R

c.643G>C

1 paper

NM_000312.4

p.G215fs

c.643_644fs

1 paper

NM_000312.4

p.M217_D222delFs

c.650_665del16

1 paper

NM_000312.4

p.D214G

c.641A>G

1 paper

NM_000312.4

p.G215_M217delFs

c.644_651del8

4 papers

NM_000312.4

p.I213T

c.638T>C

1 paper

NM_000312.4

p.L212L

c.636C>A

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.R219G

c.655A>G

8 papers

NM_000312.4

p.R211Q

c.632G>A