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.L36P

c.107T>C

Surrounding Variants

1 paper

NM_000313.4

p.L36L

c.108G>A

1 paper

NM_000313.4

p.L36V

c.106C>G

1 paper

NM_000313.4

p.V37L

c.109G>C

1 paper

NM_000313.4

p.V37G

c.110T>G

2 papers

NM_000313.4

p.V37A

c.110T>C

1 paper

NM_000313.4

p.R38W

c.112A>T

1 paper

NM_000313.4

p.R38G

c.112A>G

1 paper

NM_000313.4

p.V37delFs

c.111delA

1 paper

NM_000313.4

p.Q34L

c.101A>T

1 paper

NM_000313.4

p.R38R

c.114G>A

3 papers

NM_000313.4

p.Q34*

c.100C>T

1 paper

NM_000313.4

p.Q34insFs

c.100_101insT