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.I344I

c.1032C>T

Surrounding Variants

1 paper

NM_000313.4

p.I344delFs

c.1031delA

2 papers

NM_000313.4

p.I344T

c.1031T>C

2 papers

NM_000313.4

p.D345N

c.1033G>A

1 paper

NM_000313.4

p.I344F

c.1030A>T

1 paper

NM_000313.4

p.I344V

c.1030A>G

1 paper

NM_000313.4

p.D345A

c.1034A>C

1 paper

NM_000313.4

p.I344insFs

c.1030_1031insC

1 paper

NM_000313.4

p.D345delFs

c.1033delC

1 paper

NM_000313.4

p.H346N

c.1036C>A

1 paper

NM_000313.4

p.E342V

c.1025A>T

3 papers

NM_000313.4

p.E342K

c.1024G>A

2 papers

NM_000313.4

p.S347L

c.1040C>T