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

51 papers

NM_000821.7

p.D547N

c.1639G>A

Surrounding Variants

1 paper

NM_000821.7

p.E546K

c.1636G>A

1 paper

NM_000821.7

p.G549S

c.1645G>A

1 paper

NM_000821.7

p.G549delFs

c.1646delC

1 paper

NM_000821.7

p.F543S

c.1628T>C

1 paper

NM_000821.7

p.F543Y

c.1628T>A

1 paper

NM_000821.7

p.T551A

c.1651A>G

1 paper

NM_000821.7

p.T551P

c.1651A>C

2 papers

NM_000821.7

p.I553fs

c.1657_1658fs

1 paper

NM_000821.7

p.L538R

c.1613T>G

7 papers

NM_000821.7

p.G537A

c.1610G>C

1 paper

NM_000821.7

p.G537E

c.1610G>A

3 papers

NM_000821.7

p.G537*

c.1609G>T