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

1–12 of 1093 variants

71 papers

NM_000313.4

p.K196E

c.586A>G

39 papers

NM_000313.4

p.S501P

c.1501T>C

25 papers

NM_000313.4

p.E67A

c.200A>C

12 papers

NM_000313.4

p.N365K

c.1095T>G

12 papers

NM_000313.4

p.N365K

c.1095T>A

11 papers

NM_000313.4

p.R355C

c.1063C>T

11 papers

NM_000313.4

p.R451*

c.1351C>T

10 papers

NM_000313.4

p.T78M

c.233C>T

10 papers

NM_000313.4

p.T144N

c.431C>A

10 papers

NM_000313.4

p.R233K

c.698G>A

10 papers

NM_000313.4

p.M385_V386Splc

c.1155+5G>A

10 papers

NM_000313.4

p.P667P

c.2001A>G