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.D624fs

c.1870_1871fs

Surrounding Variants

1 paper

NM_000313.4

p.D624Splc

c.1871-1G>T

2 papers

NM_000313.4

p.D624H

c.1870G>C

2 papers

NM_000313.4

p.D624Splc

c.1871-2A>G

2 papers

NM_000313.4

p.P626A

c.1876C>G

8 papers

NM_000313.4

p.P626L

c.1877C>T

1 paper

NM_000313.4

p.P626P

c.1878A>G

1 paper

NM_000313.4

p.F627_S628insFs

c.1881_1882insTC

3 papers

NM_000313.4

p.D624Splc

c.1871-14T>G

6 papers

NM_000313.4

p.T630I

c.1889C>T

2 papers

NM_000313.4

p.V632V

c.1896G>A

2 papers

NM_000313.4

p.F635S

c.1904T>C

2 papers

NM_000313.4

p.Y636C

c.1907A>G