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.G130V

c.389G>T

Surrounding Variants

2 papers

NM_000313.4

p.D129E

c.387T>G

2 papers

NM_000313.4

p.Y131H

c.391T>C

2 papers

NM_000313.4

p.D129E

c.387T>A

1 paper

NM_000313.4

p.Y131fs

c.391_392fs

6 papers

NM_000313.4

p.D129G

c.386A>G

1 paper

NM_000313.4

p.Y131C

c.392A>G

1 paper

NM_000313.4

p.D129delFs

c.385delC

1 paper

NM_000313.4

p.D129fs

c.385_386fs

1 paper

NM_000313.4

p.M132L

c.394A>T

1 paper

NM_000313.4

p.E128G

c.383A>G

1 paper

NM_000313.4

p.N127_E128ins1

c.381_382insATC

1 paper

NM_000313.4

p.S133T

c.398G>C