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.D157Splc

c.469+5G>A

Surrounding Variants

1 paper

NM_000313.4

p.D157Splc

c.469+1G>A

1 paper

NM_000313.4

p.D157H

c.469G>C

1 paper

NM_000313.4

p.D157N

c.469G>A

1 paper

NM_000313.4

p.C154*

c.462T>A

1 paper

NM_000313.4

p.C154S

c.461G>C

1 paper

NM_000313.4

p.D157Splc

c.469+18C>T

1 paper

NM_000313.4

p.K153_C154insFs

c.459_460insG

1 paper

NM_000313.4

p.C154S

c.460T>A

4 papers

NM_000313.4

p.K153delFs

c.458delT

4 papers

NM_000313.4

p.K153fs

c.457_458fs

2 papers

NM_000313.4

p.G151A

c.452G>C

1 paper

NM_000313.4

p.Q150R

c.449A>G