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.I117V

c.349A>G

Surrounding Variants

1 paper

NM_000313.4

p.I117I

c.351T>C

1 paper

NM_000313.4

p.A116V

c.347C>T

1 paper

NM_000313.4

p.A116Splc

c.347-1G>T

1 paper

NM_000313.4

p.P118A

c.352C>G

1 paper

NM_000313.4

p.P118L

c.353C>T

1 paper

NM_000313.4

p.A116Splc

c.347-2A>G

1 paper

NM_000313.4

p.D119N

c.355G>A

2 papers

NM_000313.4

p.Q120*

c.358C>T

1 paper

NM_000313.4

p.Q120E

c.358C>G

1 paper

NM_000313.4

p.Q120K

c.358C>A

1 paper

NM_000313.4

p.Q120R

c.359A>G

1 paper

NM_000313.4

p.Q120H

c.360G>T