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.A309V

c.926C>T

Surrounding Variants

2 papers

NM_000312.4

p.A309A

c.927C>T

10 papers

NM_000312.4

p.A309T

c.925G>A

1 paper

NM_000312.4

p.S312_Q313del2

c.934_938del6

1 paper

NM_000312.4

p.S312P

c.934T>C

1 paper

NM_000312.4

p.S312W

c.935C>G

10 papers

NM_000312.4

p.S312L

c.935C>T

1 paper

NM_000312.4

p.Q313_I315delFs

c.938_945del8

1 paper

NM_000312.4

p.L305P

c.914T>C

1 paper

NM_000312.4

p.L305R

c.914T>G

1 paper

NM_000312.4

p.T314A

c.940A>G

1 paper

NM_000312.4

p.H304fs

c.910_911fs

1 paper

NM_000312.4

p.H304delFs

c.910delC