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.L124L

c.372G>C

Surrounding Variants

1 paper

NM_000313.4

p.L124P

c.371T>C

2 papers

NM_000313.4

p.P125S

c.373C>T

1 paper

NM_000313.4

p.S122_L124del3

c.364_371del9

1 paper

NM_000313.4

p.P125L

c.374C>T

1 paper

NM_000313.4

p.L124M

c.370C>A

1 paper

NM_000313.4

p.C126G

c.376T>G

8 papers

NM_000313.4

p.C126S

c.376T>A

1 paper

NM_000313.4

p.C126Y

c.377G>A

1 paper

NM_000313.4

p.P123S

c.367C>T

1 paper

NM_000313.4

p.P123T

c.367C>A

1 paper

NM_000313.4

p.S122T

c.365G>C

1 paper

NM_000313.4

p.N127I

c.380A>T