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.E66D

c.198A>C

Surrounding Variants

1 paper

NM_003891.3

p.E66D

c.198A>T

1 paper

NM_003891.3

p.G42A

c.125G>C

1 paper

NM_003891.3

p.A41T

c.121G>A

1 paper

NM_003891.3

p.A16T

c.46G>A

1 paper

NM_003891.3

p.L11V

c.31C>G

1 paper

NM_003891.3

p.G3_C4insFs

c.9_10insC

1 paper

NM_003891.3

p.C91S

c.271T>A

1 paper

NM_003891.3

p.C91S

c.272G>C

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