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.S369A

c.1105T>G

Surrounding Variants

1 paper

NM_000313.4

p.S369F

c.1106C>T

1 paper

NM_000313.4

p.T368S

c.1102A>T

1 paper

NM_000313.4

p.H367_T368insFs

c.1101_1102insT

1 paper

NM_000313.4

p.E366K

c.1096G>A

1 paper

NM_000313.4

p.T372A

c.1114A>G

12 papers

NM_000313.4

p.N365K

c.1095T>G

12 papers

NM_000313.4

p.N365K

c.1095T>A

1 paper

NM_000313.4

p.K364E

c.1090A>G

2 papers

NM_000313.4

p.G374E

c.1121G>A

2 papers

NM_000313.4

p.L363P

c.1088T>C

1 paper

NM_000313.4

p.Q362R

c.1085A>G

1 paper

NM_000313.4

p.Q362*

c.1084C>T