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

25 papers

NM_000313.4

p.E67A

c.200A>C

Surrounding Variants

2 papers

NM_000313.4

p.E67V

c.200A>T

1 paper

NM_000313.4

p.E67G

c.200A>G

3 papers

NM_000313.4

p.E67K

c.199G>A

1 paper

NM_000313.4

p.E67E

c.201A>G

1 paper

NM_000313.4

p.E67delFs

c.199_200delTC

1 paper

NM_000313.4

p.A68T

c.202G>A

2 papers

NM_000313.4

p.A68G

c.203C>G

3 papers

NM_000313.4

p.E66A

c.197A>C

1 paper

NM_000313.4

p.E66K

c.196G>A

1 paper

NM_000313.4

p.A68A

c.204C>T

1 paper

NM_000313.4

p.R69G

c.205A>G

1 paper

NM_000313.4

p.K65E

c.193A>G