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.N166K

c.498T>G

Surrounding Variants

1 paper

NM_000313.4

p.N166K

c.498T>A

1 paper

NM_000313.4

p.I167L

c.499A>T

1 paper

NM_000313.4

p.I167V

c.499A>G

1 paper

NM_000313.4

p.N166S

c.497A>G

1 paper

NM_000313.4

p.I167K

c.500T>A

3 papers

NM_000313.4

p.N166H

c.496A>C

1 paper

NM_000313.4

p.S165delFs

c.494delG

2 papers

NM_000313.4

p.S165L

c.494C>T

1 paper

NM_000313.4

p.N168Y

c.502A>T

1 paper

NM_000313.4

p.S165A

c.493T>G

2 papers

NM_000313.4

p.N168S

c.503A>G

1 paper

NM_000313.4

p.G169R

c.505G>A