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.C598*

c.1794C>A

Surrounding Variants

1 paper

NM_000821.7

p.M600V

c.1798A>G

1 paper

NM_000821.7

p.P596fs

c.1786_1787fs

1 paper

NM_000821.7

p.P596delFs

c.1787delG

1 paper

NM_000821.7

p.P596S

c.1786C>T

1 paper

NM_000821.7

p.S595R

c.1785C>G

1 paper

NM_000821.7

p.S595R

c.1785C>A

1 paper

NM_000821.7

p.V602I

c.1804G>A

1 paper

NM_000821.7

p.S595C

c.1783A>T

1 paper

NM_000821.7

p.S595R

c.1783A>C

1 paper

NM_000821.7

p.P594R

c.1781C>G

1 paper

NM_000821.7

p.V604A

c.1811T>C

1 paper

NM_000821.7

p.N605K

c.1815C>G