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

2 papers

NM_000313.4

p.I359L

c.1075A>C

Surrounding Variants

4 papers

NM_000313.4

p.I359T

c.1076T>C

1 paper

NM_000313.4

p.K358M

c.1073A>T

1 paper

NM_000313.4

p.E360G

c.1079A>G

1 paper

NM_000313.4

p.G357G

c.1071A>G

2 papers

NM_000313.4

p.G357V

c.1070G>T

2 papers

NM_000313.4

p.G357R

c.1069G>C

1 paper

NM_000313.4

p.G357R

c.1069G>A

1 paper

NM_000313.4

p.G356G

c.1068T>C

1 paper

NM_000313.4

p.Q362*

c.1084C>T

1 paper

NM_000313.4

p.Q362R

c.1085A>G

3 papers

NM_000313.4

p.R355H

c.1064G>A

11 papers

NM_000313.4

p.R355C

c.1063C>T