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.G419*

c.1255G>T

Surrounding Variants

1 paper

NM_000313.4

p.G419R

c.1255G>C

1 paper

NM_000313.4

p.G419R

c.1255G>A

1 paper

NM_000313.4

p.G419E

c.1256G>A

3 papers

NM_000313.4

p.N418Y

c.1252A>T

1 paper

NM_000313.4

p.L421L

c.1263G>C

2 papers

NM_000313.4

p.P416L

c.1247C>T

1 paper

NM_000313.4

p.P416Q

c.1247C>A

1 paper

NM_000313.4

p.K415delFs

c.1245delC

1 paper

NM_000313.4

p.K415insFs

c.1244dupA

1 paper

NM_000313.4

p.G419_L421del3

c.1255_1262del9

1 paper

NM_000313.4

p.E422_T423insFs

c.1266_1267insG

1 paper

NM_000313.4

p.K415*

c.1243A>T