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.S348R

c.1044C>G

Surrounding Variants

1 paper

NM_000821.7

p.S348R

c.1044C>A

1 paper

NM_000821.7

p.S348N

c.1043G>A

1 paper

NM_000821.7

p.R349W

c.1045C>T

1 paper

NM_000821.7

p.R349G

c.1045C>G

1 paper

NM_000821.7

p.R349Q

c.1046G>A

1 paper

NM_000821.7

p.S348R

c.1042A>C

1 paper

NM_000821.7

p.G350D

c.1049G>A

1 paper

NM_000821.7

p.K351R

c.1052A>G

1 paper

NM_000821.7

p.V344A

c.1031T>C

1 paper

NM_000821.7

p.S342C

c.1025C>G

1 paper

NM_000821.7

p.K355E

c.1063A>G

1 paper

NM_000821.7

p.K355M

c.1064A>T