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.D198Y

c.592G>T

Surrounding Variants

1 paper

NM_000313.4

p.D198N

c.592G>A

1 paper

NM_000313.4

p.K197N

c.591A>T

1 paper

NM_000313.4

p.K197R

c.590A>G

1 paper

NM_000313.4

p.K196N

c.588G>T

1 paper

NM_000313.4

p.C199Y

c.596G>A

1 paper

NM_000313.4

p.C199C

c.597T>C

71 papers

NM_000313.4

p.K196E

c.586A>G

1 paper

NM_000313.4

p.K196Q

c.586A>C

1 paper

NM_000313.4

p.K200R

c.599A>G

1 paper

NM_000313.4

p.N195S

c.584A>G

1 paper

NM_000313.4

p.K200N

c.600A>C

1 paper

NM_000313.4

p.D201N

c.601G>A