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.K39E

c.115A>G

Surrounding Variants

1 paper

NM_000313.4

p.K39Q

c.115A>C

1 paper

NM_000313.4

p.R38R

c.114G>A

1 paper

NM_000313.4

p.R40C

c.118C>T

1 paper

NM_000313.4

p.R38W

c.112A>T

1 paper

NM_000313.4

p.R38G

c.112A>G

1 paper

NM_000313.4

p.V37delFs

c.111delA

5 papers

NM_000313.4

p.R40L

c.119G>T

3 papers

NM_000313.4

p.R40H

c.119G>A

1 paper

NM_000313.4

p.V37G

c.110T>G

2 papers

NM_000313.4

p.V37A

c.110T>C

1 paper

NM_000313.4

p.V37L

c.109G>C

3 papers

NM_000313.4

p.R41C

c.121C>T