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.N509H

c.1525A>C

Surrounding Variants

7 papers

NM_000313.4

p.V510M

c.1528G>A

1 paper

NM_000313.4

p.W506*

c.1518G>A

1 paper

NM_000313.4

p.W506*

c.1517G>A

1 paper

NM_000313.4

p.L512S

c.1535T>C

1 paper

NM_000313.4

p.G505S

c.1513G>A

1 paper

NM_000313.4

p.A503S

c.1507G>T

1 paper

NM_000313.4

p.A503insFs

c.1507_1508insTT

7 papers

NM_000313.4

p.R515C

c.1543C>T

1 paper

NM_000313.4

p.R515P

c.1544G>C

2 papers

NM_000313.4

p.R515H

c.1544G>A

1 paper

NM_000313.4

p.S501F

c.1502C>T

4 papers

NM_000313.4

p.S501A

c.1501T>G