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.T235M

c.704C>T

Surrounding Variants

1 paper

NM_003891.3

p.V247A

c.740T>C

2 papers

NM_003891.3

p.E259V

c.776A>T

1 paper

NM_003891.3

p.L264P

c.791T>C

1 paper

NM_003891.3

p.W269*

c.806G>A

1 paper

NM_003891.3

p.W269*

c.807G>A

1 paper

NM_003891.3

p.L278fs

c.832_833fs

1 paper

NM_003891.3

p.L278delFs

c.834delC

1 paper

NM_003891.3

p.T282A

c.844A>G

1 paper

NM_003891.3

p.F287F

c.861C>T

2 papers

NM_003891.3

p.A288T

c.862G>A

2 papers

NM_003891.3

p.R295H

c.884G>A

1 paper

NM_003891.3

p.T296I

c.887C>T