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.L236H

c.707T>A

Surrounding Variants

1 paper

NM_000313.4

p.L236P

c.707T>C

1 paper

NM_000313.4

p.Y234*

c.702T>G

1 paper

NM_000313.4

p.S238fs

c.712_713fs

1 paper

NM_000313.4

p.S238*

c.713C>A

8 papers

NM_000313.4

p.Y234C

c.701A>G

1 paper

NM_000313.4

p.G231_R233del0

c.691_699del9

1 paper

NM_000313.4

p.K239*

c.715A>T

10 papers

NM_000313.4

p.R233K

c.698G>A

1 paper

NM_000313.4

p.S240T

c.718T>A

2 papers

NM_000313.4

p.S240Y

c.719C>A

1 paper

NM_000313.4

p.C241R

c.721T>C

1 paper

NM_000313.4

p.G231A

c.692G>C