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.C91S

c.272G>C

Surrounding Variants

1 paper

NM_003891.3

p.C91S

c.271T>A

1 paper

NM_003891.3

p.G108fs

c.322_323fs

1 paper

NM_003891.3

p.A125Splc

c.374-119A>T

1 paper

NM_003891.3

p.G144R

c.430G>A

3 papers

NM_003891.3

p.T149T

c.447A>G

1 paper

NM_003891.3

p.Q154*

c.460C>T

1 paper

NM_003891.3

p.H162N

c.484C>A

1 paper

NM_003891.3

p.V166G

c.497T>G

1 paper

NM_003891.3

p.L176L

c.526C>T

1 paper

NM_003891.3

p.S178P

c.532T>C

1 paper

NM_003891.3

p.R181H

c.542G>A

2 papers

NM_003891.3

p.Q191_V192Splc

c.573+79G>A