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.R317W

c.949C>T

Surrounding Variants

2 papers

NM_000821.7

p.R317Q

c.950G>A

1 paper

NM_000821.7

p.P316R

c.947C>G

8 papers

NM_000821.7

p.W315*

c.945G>A

8 papers

NM_000821.7

p.W315*

c.944G>A

1 paper

NM_000821.7

p.W315insFs

c.943_944insC

1 paper

NM_000821.7

p.L319P

c.956T>C

1 paper

NM_000821.7

p.E314D

c.942G>T

1 paper

NM_000821.7

p.E314D

c.942G>C

1 paper

NM_000821.7

p.E314G

c.941A>G

3 papers

NM_000821.7

p.P313delFs

c.938_939delAG

1 paper

NM_000821.7

p.V320V

c.960G>A

2 papers

NM_000821.7

p.P313fs

c.937_938fs