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

2 papers

NM_000821.7

p.T527A

c.1579A>G

Surrounding Variants

2 papers

NM_000821.7

p.T527I

c.1580C>T

1 paper

NM_000821.7

p.E528*

c.1582G>T

1 paper

NM_000821.7

p.E528D

c.1584G>T

1 paper

NM_000821.7

p.E528D

c.1584G>C

1 paper

NM_000821.7

p.V529M

c.1585G>A

1 paper

NM_000821.7

p.V529_V530del1

c.1587_1589delACC

1 paper

NM_000821.7

p.V530del1

c.1588_1589delGAC

1 paper

NM_000821.7

p.S522S

c.1566C>T

2 papers

NM_000821.7

p.S522I

c.1565G>T

1 paper

NM_000821.7

p.S522N

c.1565G>A

1 paper

NM_000821.7

p.I532V

c.1594A>G

1 paper

NM_000821.7

p.I532L

c.1594A>C