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.L611P

c.1832T>C

Surrounding Variants

1 paper

NM_000821.7

p.E612Q

c.1834G>C

1 paper

NM_000821.7

p.A610S

c.1828G>T

2 papers

NM_001142269.4

p.Q556*

c.1666C>T

NM_000821.7

p.Q613*

c.1837C>T

1 paper

NM_000821.7

p.E608V

c.1823A>T

1 paper

NM_000821.7

p.D614G

c.1841A>G

1 paper

NM_000821.7

p.T606A

c.1816A>G

1 paper

NM_000821.7

p.T606P

c.1816A>C

1 paper

NM_000821.7

p.N605K

c.1815C>G

1 paper

NM_000821.7

p.N605K

c.1815C>A

1 paper

NM_000821.7

p.V604A

c.1811T>C

1 paper

NM_000821.7

p.V602I

c.1804G>A

1 paper

NM_000821.7

p.M600V

c.1798A>G