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.K146*

c.436A>T

Surrounding Variants

2 papers

NM_000313.4

p.C145Y

c.434G>A

1 paper

NM_000313.4

p.C145R

c.433T>C

1 paper

NM_000313.4

p.P147A

c.439C>G

1 paper

NM_000313.4

p.P147L

c.440C>T

10 papers

NM_000313.4

p.T144N

c.431C>A

1 paper

NM_000313.4

p.G148C

c.442G>T

1 paper

NM_000313.4

p.G148A

c.443G>C

1 paper

NM_000313.4

p.G148G

c.444T>G

1 paper

NM_000313.4

p.C143F

c.428G>T

3 papers

NM_000313.4

p.W149C

c.447G>T

3 papers

NM_000313.4

p.W149C

c.447G>C

1 paper

NM_000313.4

p.T142I

c.425C>T