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

10 papers

NM_000313.4

p.M385_V386Splc

c.1155+5G>A

Surrounding Variants

1 paper

NM_000313.4

p.G375_M385delFs

c.1124_1155del32

3 papers

NM_000313.4

p.M385_V386Splc

c.1155+1G>A

2 papers

NM_000313.4

p.M385I

c.1155G>T

2 papers

NM_000313.4

p.M385I

c.1155G>C

2 papers

NM_000313.4

p.M385I

c.1155G>A

4 papers

NM_000313.4

p.M385T

c.1154T>C

1 paper

NM_000313.4

p.M385V

c.1153A>G

1 paper

NM_000313.4

p.W383insFs

c.1148_1149insC

1 paper

NM_000313.4

p.W383R

c.1147T>C

1 paper

NM_000313.4

p.W383R

c.1147T>A

1 paper

NM_000313.4

p.L382fs

c.1144_1145fs

1 paper

NM_000313.4

p.G381_L382insATC

c.1141_1145ins9