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

2 papers

NM_000821.7

p.R419H

c.1256G>A

Surrounding Variants

1 paper

NM_000821.7

p.R419L

c.1256G>T

1 paper

NM_000821.7

p.T420S

c.1258A>T

1 paper

NM_000821.7

p.T420S

c.1259C>G

1 paper

NM_000821.7

p.G421A

c.1262G>C

1 paper

NM_000821.7

p.G421D

c.1262G>A

2 papers

NM_000821.7

p.D417N

c.1249G>A

2 papers

NM_000821.7

p.E422K

c.1264G>A

1 paper

NM_000821.7

p.R416H

c.1247G>A

2 papers

NM_001142269.4

p.R359C

c.1075C>T

NM_000821.7

p.R416C

c.1246C>T

1 paper

NM_000821.7

p.L423M

c.1267C>A

1 paper

NM_000821.7

p.L423P

c.1268T>C

1 paper

NM_000821.7

p.G424S

c.1270G>A