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.Q34insFs

c.100_101insT

Surrounding Variants

3 papers

NM_000313.4

p.Q34*

c.100C>T

1 paper

NM_000313.4

p.S33del1

c.97_98delTGA

1 paper

NM_000313.4

p.Q34L

c.101A>T

1 paper

NM_000313.4

p.S33insFs

c.97dupT

1 paper

NM_000313.4

p.S33A

c.97T>G

1 paper

NM_000313.4

p.S33P

c.97T>C

1 paper

NM_000313.4

p.S33fs

c.97_98fs

1 paper

NM_000313.4

p.A32D

c.95C>A

2 papers

NM_000313.4

p.A32T

c.94G>A

1 paper

NM_000313.4

p.L36V

c.106C>G

1 paper

NM_000313.4

p.L36P

c.107T>C

1 paper

NM_000313.4

p.Q31Q

c.93G>A