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

11 papers

NM_001314077.2

p.P699P

c.2097A>G

NM_000313.4

p.P667P

c.2001A>G

Surrounding Variants

3 papers

NM_000313.4

p.P667L

c.2000C>T

1 paper

NM_000313.4

p.V669F

c.2005G>T

2 papers

NM_000313.4

p.C666S

c.1997G>C

1 paper

NM_000313.4

p.V669I

c.2005G>A

2 papers

NM_000313.4

p.C666S

c.1996T>A

1 paper

NM_000313.4

p.S665L

c.1994C>T

1 paper

NM_000313.4

p.S665*

c.1994C>G

1 paper

NM_000313.4

p.S665*

c.1994C>A

2 papers

NM_000313.4

p.W670*

c.2010G>A

1 paper

NM_000313.4

p.H664P

c.1991A>C

1 paper

NM_000313.4

p.A663D

c.1988C>A

2 papers

NM_000313.4

p.H658_D660del3

c.1972_1979del9