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.L27L

c.81G>A

Surrounding Variants

1 paper

NM_000313.4

p.S28P

c.82T>C

1 paper

NM_000313.4

p.L27L

c.79T>C

1 paper

NM_000313.4

p.L27M

c.79T>A

1 paper

NM_000313.4

p.F26F

c.78T>C

2 papers

NM_000313.4

p.F26S

c.77T>C

1 paper

NM_000313.4

p.F26Y

c.77T>A

1 paper

NM_000313.4

p.K29*

c.85A>T

1 paper

NM_000313.4

p.F26Splc

c.77-1G>C

1 paper

NM_000313.4

p.Q30K

c.88C>A

1 paper

NM_000313.4

p.Q30H

c.90A>T

1 paper

NM_000313.4

p.Q31Q

c.93G>A

2 papers

NM_000313.4

p.A32T

c.94G>A