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.Q173_I174insFs

c.519_520insC

Surrounding Variants

1 paper

NM_000313.4

p.Q173delFs

c.517_518delTG

2 papers

NM_000313.4

p.I174L

c.520A>C

4 papers

NM_000313.4

p.C175F

c.524G>T

1 paper

NM_000313.4

p.C175Y

c.524G>A

1 paper

NM_000313.4

p.S172C

c.514A>T

1 paper

NM_000313.4

p.C175*

c.525T>A

1 paper

NM_000313.4

p.D176H

c.526G>C

1 paper

NM_000313.4

p.C171S

c.512G>C

1 paper

NM_000313.4

p.D176N

c.526G>A

1 paper

NM_000313.4

p.C171S

c.511T>A

1 paper

NM_000313.4

p.D176G

c.527A>G

1 paper

NM_000313.4

p.D176delFs

c.526delC