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.I490fs

c.1468_1469fs

Surrounding Variants

2 papers

NM_000313.4

p.I490delFs

c.1468delT

1 paper

NM_000313.4

p.I490fs

c.1468_1469fs

1 paper

NM_000313.4

p.G489*

c.1465G>T

2 papers

NM_000313.4

p.G489R

c.1465G>C

1 paper

NM_000313.4

p.G489R

c.1465G>A

3 papers

NM_000313.4

p.A491D

c.1472C>A

1 paper

NM_000313.4

p.S488A

c.1462T>G

1 paper

NM_000313.4

p.Q492*

c.1474C>T

1 paper

NM_000313.4

p.G487delFs

c.1460delC

1 paper

NM_000313.4

p.Q492R

c.1475A>G

1 paper

NM_000313.4

p.S483_G487delFs

c.1449_1459del11

1 paper

NM_000313.4

p.P486R

c.1457C>G