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.D157Splc

c.470-2A>T

Surrounding Variants

1 paper

NM_000313.4

p.D157Splc

c.470-2A>G

1 paper

NM_000313.4

p.D157H

c.469G>C

2 papers

NM_000313.4

p.D157N

c.469G>A

2 papers

NM_000313.4

p.D157G

c.470A>G

2 papers

NM_000313.4

p.D157A

c.470A>C

1 paper

NM_000313.4

p.D157D

c.471C>T

1 paper

NM_000313.4

p.E160*

c.478G>T

3 papers

NM_000313.4

p.C161G

c.481T>G

2 papers

NM_000313.4

p.C161R

c.481T>C

2 papers

NM_000313.4

p.C161Y

c.482G>A

1 paper

NM_000313.4

p.C161*

c.483C>A

2 papers

NM_000313.4

p.D163N

c.487G>A