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

1–12 of 682 variants

51 papers

NM_000821.7

p.D547N

c.1639G>A

42 papers

NM_000821.7

p.R325Q

c.974G>A

27 papers

NM_000821.7

p.L394R

c.1181T>G

23 papers

NM_000821.7

p.V255M

c.763G>A

21 papers

NM_000821.7

p.R485P

c.1454G>C

17 papers

NM_000821.7

p.W501S

c.1502G>C

15 papers

NM_000821.7

p.S300F

c.899C>T

12 papers

NM_000821.7

p.R83W

c.247C>T

12 papers

NM_000821.7

p.F299S

c.896T>C

12 papers

NM_000821.7

p.Q374*

c.1120C>T

12 papers

NM_000821.7

p.T591K

c.1772C>A

11 papers

NM_000821.7

p.W157R

c.469T>C