Varaico: Literature-Extracted Genetic Variants

GGCX

346 papers

RefSeq Summary

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that ...

Pfam Domains

HTTMaa 56–128UCSCHTTM domain

HTTMaa 56–315UCSCHTTM domain

VKGC_lumenal_domaa 359–508UCSCVitamin K-dependent gamma-carboxylase, lumenal domain

Gene Aliases

HGNC Name

gamma-glutamyl carboxylase

HGNC Alias Symbol

VKCFD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000821.7

p.N570K

c.1710C>G

Surrounding Variants

1 paper

NM_000821.7

p.N570K

c.1710C>A

1 paper

NM_000821.7

p.Q568R

c.1703A>G

1 paper

NM_000821.7

p.R574*

c.1720C>T

2 papers

NM_000821.7

p.R574Q

c.1721G>A

1 paper

NM_000821.7

p.A566V

c.1697C>T

2 papers

NM_000821.7

p.G576A

c.1727G>C

1 paper

NM_000821.7

p.L564V

c.1690C>G

1 paper

NM_000821.7

p.K578E

c.1732A>G

1 paper

NM_000821.7

p.T561N

c.1682C>A

8 papers

NM_000821.7

p.G558R

c.1672G>C

8 papers

NM_000821.7

p.G558R

c.1672G>A

1 paper

NM_000821.7

p.Q557H

c.1671G>T