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.M303R

c.908T>G

Surrounding Variants

1 paper

NM_000821.7

p.V302A

c.905T>C

1 paper

NM_000821.7

p.V302I

c.904G>A

2 papers

NM_000821.7

p.S300_Y301del1

c.899_901delAGG

1 paper

NM_000821.7

p.S306G

c.916A>G

1 paper

NM_000821.7

p.S306R

c.916A>C

15 papers

NM_000821.7

p.S300F

c.899C>T

1 paper

NM_000821.7

p.S306R

c.918C>G

1 paper

NM_000821.7

p.S306R

c.918C>A

12 papers

NM_000821.7

p.F299S

c.896T>C

1 paper

NM_000821.7

p.P308P

c.924T>C

1 paper

NM_000821.7

p.G297Splc

c.890-1G>A

3 papers

NM_000821.7

p.L309L

c.927C>T