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

3 papers

NM_000313.4

p.L446P

c.1337T>C

Surrounding Variants

1 paper

NM_000313.4

p.L446R

c.1337T>G

1 paper

NM_000313.4

p.L446V

c.1336C>G

1 paper

NM_000313.4

p.D447N

c.1339G>A

3 papers

NM_000313.4

p.R445H

c.1334G>A

2 papers

NM_000313.4

p.R445C

c.1333C>T

1 paper

NM_000313.4

p.G448A

c.1343G>C

3 papers

NM_000313.4

p.P444L

c.1331C>T

1 paper

NM_000313.4

p.C449S

c.1345T>A

1 paper

NM_000313.4

p.C449F

c.1346G>T

1 paper

NM_000313.4

p.C449S

c.1346G>C

2 papers

NM_000313.4

p.C449Y

c.1346G>A

1 paper

NM_000313.4

p.N443D

c.1327A>G