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.D75H

c.223G>C

Surrounding Variants

1 paper

NM_000313.4

p.D75G

c.224A>G

1 paper

NM_000313.4

p.P76A

c.226C>G

1 paper

NM_000313.4

p.N74Y

c.220A>T

8 papers

NM_000313.4

p.P76L

c.227C>T

1 paper

NM_000313.4

p.D75delFs

c.225delG

1 paper

NM_000313.4

p.E73Q

c.217G>C

2 papers

NM_000313.4

p.E77K

c.229G>A

2 papers

NM_000313.4

p.E77G

c.230A>G

1 paper

NM_000313.4

p.E77A

c.230A>C

1 paper

NM_000313.4

p.F72Y

c.215T>A

10 papers

NM_000313.4

p.T78M

c.233C>T

1 paper

NM_000313.4

p.E70D

c.210G>T