Varaico: Literature-Extracted Genetic Variants

PROS1

1,617 papers

RefSeq Summary

This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in bot...

Pfam Domains

Glaaa 46–86UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

hEGFaa 133–149UCSCHuman growth factor-like EGF

FXa_inhibitionaa 165–199UCSCCoagulation Factor Xa inhibitory site

EGF_CAaa 201–241UCSCCalcium-binding EGF domain

EGF_CAaa 243–282UCSCCalcium-binding EGF domain

Laminin_G_1aa 329–459UCSCLaminin G domain

Gene Aliases

HGNC Name

protein S

HGNC Previous Name

protein S (alpha)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000313.4

p.K481R

c.1442A>G

Surrounding Variants

1 paper

NM_000313.4

p.G482V

c.1445G>T

1 paper

NM_000313.4

p.G482D

c.1445G>A

1 paper

NM_000313.4

p.E480*

c.1438G>T

1 paper

NM_000313.4

p.G482G

c.1446C>T

1 paper

NM_000313.4

p.T478I

c.1433C>T

1 paper

NM_000313.4

p.T478S

c.1433C>G

1 paper

NM_000313.4

p.Y484F

c.1451A>T

1 paper

NM_000313.4

p.T478S

c.1432A>T

1 paper

NM_000313.4

p.P486R

c.1457C>G

3 papers

NM_000313.4

p.C475F

c.1424G>T

1 paper

NM_000313.4

p.C475Y

c.1424G>A

1 paper

NM_000313.4

p.S483_G487delFs

c.1449_1459del11