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.V191D

c.572T>A

Surrounding Variants

1 paper

NM_000313.4

p.M192fs

c.574_575fs

1 paper

NM_000313.4

p.M192V

c.574A>G

1 paper

NM_000313.4

p.L193I

c.577C>A

2 papers

NM_000313.4

p.M192del1

c.574_576delCAT

1 paper

NM_000313.4

p.L193R

c.578T>G

1 paper

NM_000313.4

p.G189V

c.566G>T

3 papers

NM_000313.4

p.G189A

c.566G>C

2 papers

NM_000313.4

p.G189D

c.566G>A

1 paper

NM_000313.4

p.N188insFs

c.563_564insA

2 papers

NM_000313.4

p.S194fs

c.580_581fs

3 papers

NM_000313.4

p.S194L

c.581C>T

2 papers

NM_000313.4

p.S194delFs

c.580delA