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.R56fs

c.166_167fs

Surrounding Variants

1 paper

NM_000313.4

p.R56I

c.167G>T

1 paper

NM_000313.4

p.E57*

c.169G>T

1 paper

NM_000313.4

p.E55*

c.163G>T

1 paper

NM_000313.4

p.E55K

c.163G>A

1 paper

NM_000313.4

p.L45_L54delFs

c.134_162del29

1 paper

NM_000313.4

p.E57V

c.170A>T

1 paper

NM_000313.4

p.L54R

c.161T>G

1 paper

NM_000313.4

p.C58S

c.172T>A

4 papers

NM_000313.4

p.L54F

c.160C>T

2 papers

NM_000313.4

p.L54V

c.160C>G

1 paper

NM_000313.4

p.L54I

c.160C>A

1 paper

NM_000313.4

p.N53insFs

c.158dupA