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.L45*

c.134T>A

Surrounding Variants

2 papers

NM_000313.4

p.L45*

c.134T>G

1 paper

NM_000313.4

p.L45S

c.134T>C

1 paper

NM_000313.4

p.L46V

c.136C>G

1 paper

NM_000313.4

p.L46R

c.137T>G

2 papers

NM_000313.4

p.L46P

c.137T>C

4 papers

NM_000313.4

p.L46H

c.137T>A

1 paper

NM_000313.4

p.S44F

c.131C>T

1 paper

NM_000313.4

p.S44A

c.130T>G

1 paper

NM_000313.4

p.E47*

c.139G>T

1 paper

NM_000313.4

p.E47K

c.139G>A

1 paper

NM_000313.4

p.N43S

c.128A>G

1 paper

NM_000313.4

p.E47D

c.141A>T