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.L207F

c.621G>C

Surrounding Variants

1 paper

NM_000313.4

p.K208M

c.623A>T

1 paper

NM_000313.4

p.S206S

c.618T>C

1 paper

NM_000313.4

p.S206F

c.617C>T

1 paper

NM_000313.4

p.P209A

c.625C>G

1 paper

NM_000313.4

p.P209L

c.626C>T

1 paper

NM_000313.4

p.C205S

c.614G>C

1 paper

NM_000313.4

p.S210T

c.629G>C

1 paper

NM_000313.4

p.E204D

c.612A>C

4 papers

NM_000313.4

p.E204G

c.611A>G

2 papers

NM_000313.4

p.E204A

c.611A>C

1 paper

NM_000313.4

p.I211T

c.632T>C

1 paper

NM_000313.4

p.E204Q

c.610G>C