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

2 papers

NM_000313.4

p.I220del1

c.658_660delGAT

Surrounding Variants

1 paper

NM_000313.4

p.P221S

c.661C>T

4 papers

NM_000313.4

p.G222R

c.664G>C

5 papers

NM_000313.4

p.G222R

c.664G>A

1 paper

NM_000313.4

p.P221delFs

c.663delT

2 papers

NM_000313.4

p.N219S

c.656A>G

1 paper

NM_000313.4

p.D223N

c.667G>A

1 paper

NM_000313.4

p.N219D

c.655A>G

2 papers

NM_000313.4

p.D223A

c.668A>C

1 paper

NM_000313.4

p.K218Q

c.652A>C

2 papers

NM_000313.4

p.C217Y

c.650G>A

1 paper

NM_000313.4

p.E225Q

c.673G>C

1 paper

NM_000313.4

p.C226S

c.676T>A