Varaico: Literature-Extracted Genetic Variants

PROZ

52 papers

RefSeq Summary

This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing...

Pfam Domains

Glaaa 46–86UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

EGFaa 91–121UCSCEGF-like domain

cEGFaa 147–170UCSCComplement Clr-like EGF-like

Trypsinaa 177–395UCSCTrypsin

Gene Aliases

HGNC Name

protein Z, vitamin K dependent plasma glycoprotein

HGNC Alias Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003891.3

p.A347T

c.1039G>A

Surrounding Variants

1 paper

NM_003891.3

p.T336A

c.1006A>G

1 paper

NM_003891.3

p.E325G

c.974A>G

1 paper

NM_003891.3

p.G369R

c.1105G>A

1 paper

NM_003891.3

p.G324W

c.970G>T

1 paper

NM_003891.3

p.S373P

c.1117T>C

1 paper

NM_003891.3

p.P318L

c.953C>T

1 paper

NM_003891.3

p.P318A

c.952C>G

1 paper

NM_003891.3

p.T316M

c.947C>T

1 paper

NM_003891.3

p.D309D

c.927C>T

1 paper

NM_003891.3

p.Y391Y

c.1173C>T

1 paper

NM_003891.3

p.T296I

c.887C>T

2 papers

NM_003891.3

p.R295H

c.884G>A