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.K440N

c.1320A>C

Surrounding Variants

1 paper

NM_000313.4

p.K440N

c.1320A>T

1 paper

NM_000313.4

p.P441L

c.1322C>T

1 paper

NM_000313.4

p.I439I

c.1317T>C

1 paper

NM_000313.4

p.P441delFs

c.1321delG

1 paper

NM_000313.4

p.E437A

c.1310A>C

1 paper

NM_000313.4

p.P441_I442Splc

c.1323+8T>G

1 paper

NM_000313.4

p.E435G

c.1304A>G

1 paper

NM_000313.4

p.E435A

c.1304A>C

1 paper

NM_000313.4

p.E435K

c.1303G>A

1 paper

NM_000313.4

p.V434A

c.1301T>C

1 paper

NM_000313.4

p.K433K

c.1299A>G

6 papers

NM_000313.4

p.K433T

c.1298A>C