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.E60*

c.178G>T

Surrounding Variants

1 paper

NM_000313.4

p.E60Q

c.178G>C

2 papers

NM_000313.4

p.E60K

c.178G>A

1 paper

NM_000313.4

p.E60A

c.179A>C

1 paper

NM_000313.4

p.I59S

c.176T>G

1 paper

NM_000313.4

p.E61*

c.181G>T

2 papers

NM_000313.4

p.E61K

c.181G>A

1 paper

NM_000313.4

p.I59V

c.175A>G

1 paper

NM_000313.4

p.C58W

c.174C>G

1 paper

NM_001314077.2

p.C90F

c.269G>T

1 paper

NM_000313.4

p.C58S

c.173G>C

1 paper

NM_000313.4

p.C58Y

c.173G>A

1 paper

NM_000313.4

p.C58S

c.172T>A