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.C64G

c.190T>G

Surrounding Variants

2 papers

NM_000312.4

p.C64R

c.190T>C

1 paper

NM_000312.4

p.C64delFs

c.191_192delGT

1 paper

NM_000312.4

p.C64Y

c.191G>A

4 papers

NM_000312.4

p.C64W

c.192T>G

1 paper

NM_000312.4

p.I63F

c.187A>T

2 papers

NM_000312.4

p.E62A

c.185A>C

2 papers

NM_000312.4

p.E62K

c.184G>A

5 papers

NM_000312.4

p.E67K

c.199G>A

1 paper

NM_000312.4

p.E61Q

c.181G>C

2 papers

NM_000312.4

p.E67A

c.200A>C

2 papers

NM_000312.4

p.E68K

c.202G>A

1 paper

NM_000312.4

p.E68A

c.203A>C