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.H587R

c.1760A>G

Surrounding Variants

1 paper

NM_000821.7

p.Y586*

c.1758C>G

1 paper

NM_000821.7

p.Y586*

c.1758C>A

2 papers

NM_000821.7

p.Y586F

c.1757A>T

1 paper

NM_000821.7

p.V589L

c.1765G>T

1 paper

NM_000821.7

p.V589L

c.1765G>C

1 paper

NM_000821.7

p.E585*

c.1753G>T

1 paper

NM_000821.7

p.G584D

c.1751G>A

3 papers

NM_000821.7

p.T591M

c.1772C>T

12 papers

NM_000821.7

p.T591K

c.1772C>A

1 paper

NM_000821.7

p.P594R

c.1781C>G

1 paper

NM_000821.7

p.S595C

c.1783A>T

1 paper

NM_000821.7

p.S595R

c.1783A>C