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.L193I

c.577C>A

Surrounding Variants

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.M192fs

c.574_575fs

1 paper

NM_000313.4

p.M192V

c.574A>G

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

1 paper

NM_000313.4

p.V191D

c.572T>A

1 paper

NM_000313.4

p.M192_N195Fs

c.576_583delinsTGAAAGCFs

1 paper

NM_000313.4

p.N195S

c.584A>G

71 papers

NM_000313.4

p.K196E

c.586A>G

1 paper

NM_000313.4

p.K196Q

c.586A>C