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.V403L

c.1207G>T

Surrounding Variants

1 paper

NM_000821.7

p.V403L

c.1207G>C

10 papers

NM_000821.7

p.H404P

c.1211A>C

1 paper

NM_000821.7

p.M401T

c.1202T>C

1 paper

NM_000821.7

p.H404Q

c.1212C>G

1 paper

NM_000821.7

p.H404Q

c.1212C>A

1 paper

NM_000821.7

p.M401V

c.1201A>G

1 paper

NM_000821.7

p.R406L

c.1217G>T

2 papers

NM_000821.7

p.R406H

c.1217G>A

5 papers

NM_000821.7

p.R406R

c.1218C>T

1 paper

NM_000821.7

p.S407A

c.1219T>G

1 paper

NM_000821.7

p.S398A

c.1192T>G

3 papers

NM_000821.7

p.H408Q

c.1224C>G