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.V320V

c.960G>A

Surrounding Variants

1 paper

NM_000821.7

p.S321C

c.962C>G

1 paper

NM_000821.7

p.L319P

c.956T>C

1 paper

NM_000821.7

p.Y322S

c.965A>C

1 paper

NM_000821.7

p.C323R

c.967T>C

2 papers

NM_000821.7

p.R317Q

c.950G>A

1 paper

NM_000821.7

p.R317W

c.949C>T

1 paper

NM_000821.7

p.R325*

c.973C>T

1 paper

NM_000821.7

p.R325G

c.973C>G

1 paper

NM_000821.7

p.P316R

c.947C>G

2 papers

NM_000821.7

p.R325insFs

c.973dupC

42 papers

NM_000821.7

p.R325Q

c.974G>A

8 papers

NM_000821.7

p.W315*

c.945G>A