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

3 papers

NM_000313.4

p.G52D

c.155G>A

Surrounding Variants

1 paper

NM_000313.4

p.G52G

c.156T>A

1 paper

NM_000313.4

p.G52C

c.154G>T

1 paper

NM_000313.4

p.G52R

c.154G>C

1 paper

NM_000313.4

p.G52S

c.154G>A

1 paper

NM_000313.4

p.Q51delFs

c.152delT

1 paper

NM_000313.4

p.Q51R

c.152A>G

1 paper

NM_000313.4

p.K39_N53delFs

c.117_157del41

1 paper

NM_000313.4

p.N53insFs

c.158dupA

1 paper

NM_000313.4

p.N53delFs

c.157delT

1 paper

NM_000313.4

p.Q51K

c.151C>A

1 paper

NM_000313.4

p.K50delFs

c.150delT

4 papers

NM_000313.4

p.L54F

c.160C>T