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.G519S

c.1555G>A

Surrounding Variants

1 paper

NM_000313.4

p.S517_T518del2

c.1549_1553del6

1 paper

NM_000313.4

p.S517_T518delFs

c.1551_1552delTG

1 paper

NM_000313.4

p.T518M

c.1553C>T

3 papers

NM_000313.4

p.T518fs

c.1552_1553fs

2 papers

NM_000313.4

p.S517_T518Fs

c.1551_1552delinsGFs

1 paper

NM_000313.4

p.G521S

c.1561G>A

2 papers

NM_000313.4

p.G521D

c.1562G>A

1 paper

NM_000313.4

p.V522A

c.1565T>C

1 paper

NM_000313.4

p.R515P

c.1544G>C

2 papers

NM_000313.4

p.R515H

c.1544G>A

7 papers

NM_000313.4

p.R515C

c.1543C>T

2 papers

NM_000313.4

p.M523T

c.1568T>C