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.K470E

c.1408A>G

Surrounding Variants

1 paper

NM_000313.4

p.K470R

c.1409A>G

1 paper

NM_000313.4

p.Q471*

c.1411C>T

1 paper

NM_000313.4

p.I467_Q468insFs

c.1401_1402insT

2 papers

NM_000313.4

p.K473*

c.1417A>T

1 paper

NM_000313.4

p.K473Q

c.1417A>C

1 paper

NM_000313.4

p.K473R

c.1418A>G

1 paper

NM_000313.4

p.K473T

c.1418A>C

2 papers

NM_000313.4

p.K473delFs

c.1418delT

1 paper

NM_000313.4

p.C475G

c.1423T>G

1 paper

NM_000313.4

p.C475R

c.1423T>C

3 papers

NM_000313.4

p.C475F

c.1424G>T

1 paper

NM_000313.4

p.C475Y

c.1424G>A