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.G638C

c.1912G>T

Surrounding Variants

1 paper

NM_000313.4

p.N637delFs

c.1910delT

1 paper

NM_000313.4

p.G638D

c.1913G>A

2 papers

NM_000313.4

p.C639G

c.1915T>G

1 paper

NM_000313.4

p.C639F

c.1916G>T

3 papers

NM_000313.4

p.C639Y

c.1916G>A

2 papers

NM_000313.4

p.Y636C

c.1907A>G

1 paper

NM_000313.4

p.M640T

c.1919T>C

2 papers

NM_000313.4

p.F635S

c.1904T>C

2 papers

NM_000313.4

p.E641*

c.1921G>T

2 papers

NM_000313.4

p.V632V

c.1896G>A

1 paper

NM_000313.4

p.I644S

c.1931T>G

1 paper

NM_000313.4

p.I644N

c.1931T>A