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.G180R

c.538G>A

Surrounding Variants

1 paper

NM_000313.4

p.G180R

c.538G>C

1 paper

NM_000313.4

p.P179P

c.537T>A

2 papers

NM_000313.4

p.P179L

c.536C>T

1 paper

NM_000313.4

p.P179R

c.536C>G

1 paper

NM_000313.4

p.G180delFs

c.539delC

2 papers

NM_000313.4

p.T178I

c.533C>T

1 paper

NM_000313.4

p.Y182*

c.546C>G

1 paper

NM_000313.4

p.Y182*

c.546C>A

1 paper

NM_000313.4

p.H183Y

c.547C>T

2 papers

NM_000313.4

p.H183R

c.548A>G

1 paper

NM_000313.4

p.D176G

c.527A>G

1 paper

NM_000313.4

p.D176delFs

c.526delC