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

27 papers

NM_000821.7

p.L394R

c.1181T>G

Surrounding Variants

1 paper

NM_000821.7

p.G393V

c.1178G>T

2 papers

NM_000821.7

p.G396S

c.1186G>A

1 paper

NM_000821.7

p.T391K

c.1172C>A

1 paper

NM_000821.7

p.Y397S

c.1190A>C

1 paper

NM_000821.7

p.T391A

c.1171A>G

1 paper

NM_000821.7

p.S398A

c.1192T>G

1 paper

NM_000821.7

p.W390delFs

c.1168delA

1 paper

NM_000821.7

p.N389K

c.1167C>G

1 paper

NM_000821.7

p.N389K

c.1167C>A

1 paper

NM_000821.7

p.N388K

c.1164C>G

1 paper

NM_000821.7

p.N388K

c.1164C>A

1 paper

NM_000821.7

p.N388D

c.1162A>G