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

4 papers

NM_000313.4

p.L455S

c.1364T>C

Surrounding Variants

2 papers

NM_000313.4

p.L455F

c.1365G>T

2 papers

NM_000313.4

p.L455F

c.1365G>C

1 paper

NM_000313.4

p.W453*

c.1359G>A

1 paper

NM_000313.4

p.W453*

c.1358G>A

1 paper

NM_000313.4

p.K457T

c.1370A>C

2 papers

NM_000313.4

p.K457N

c.1371G>T

2 papers

NM_000313.4

p.K457N

c.1371G>C

1 paper

NM_000313.4

p.Q458K

c.1372C>A

3 papers

NM_000313.4

p.R451Q

c.1352G>A

11 papers

NM_000313.4

p.R451*

c.1351C>T

1 paper

NM_000313.4

p.C449F

c.1346G>T

1 paper

NM_000313.4

p.C449S

c.1346G>C