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.G125R

c.373G>C

Surrounding Variants

4 papers

NM_000821.7

p.G125R

c.373G>A

4 papers

NM_000821.7

p.G125Splc

c.373+3G>T

1 paper

NM_000821.7

p.F123L

c.369T>G

1 paper

NM_000821.7

p.F123L

c.369T>A

1 paper

NM_000821.7

p.F123L

c.367T>C

1 paper

NM_000821.7

p.M122V

c.364A>G

1 paper

NM_000821.7

p.T120A

c.358A>G

1 paper

NM_000821.7

p.V118I

c.352G>A

1 paper

NM_000821.7

p.L117R

c.350T>G

1 paper

NM_000821.7

p.L117P

c.350T>C

1 paper

NM_000821.7

p.Y116D

c.346T>G

1 paper

NM_000821.7

p.D113D

c.339C>T