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.L74delFs

c.221delA

Surrounding Variants

1 paper

NM_000821.7

p.M75I

c.225G>A

1 paper

NM_000821.7

p.V76V

c.228G>A

4 papers

NM_000821.7

p.G72Splc

c.215-1G>T

5 papers

NM_000821.7

p.P80L

c.239C>T

2 papers

NM_000821.7

p.E82insFs

c.244_245insTG

1 paper

NM_000821.7

p.E82Q

c.244G>C

12 papers

NM_000821.7

p.R83W

c.247C>T

2 papers

NM_000821.7

p.R83L

c.248G>T

6 papers

NM_000821.7

p.R83P

c.248G>C

2 papers

NM_000821.7

p.R83Q

c.248G>A

1 paper

NM_000821.7

p.L85F

c.253C>T

1 paper

NM_000821.7

p.L88L

c.262C>T