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.G231A

c.692G>C

Surrounding Variants

2 papers

NM_000313.4

p.E230A

c.689A>C

3 papers

NM_000313.4

p.E230K

c.688G>A

10 papers

NM_000313.4

p.R233K

c.698G>A

1 paper

NM_000313.4

p.G231_R233del0

c.691_699del9

1 paper

NM_000313.4

p.C228W

c.684C>G

1 paper

NM_000313.4

p.C228S

c.683G>C

1 paper

NM_000313.4

p.C228Y

c.683G>A

8 papers

NM_000313.4

p.Y234C

c.701A>G

1 paper

NM_000313.4

p.Y234*

c.702T>G

1 paper

NM_000313.4

p.C228R

c.682T>C

1 paper

NM_000313.4

p.C228S

c.682T>A

1 paper

NM_000313.4

p.E227G

c.680A>G