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

23 papers

NM_000821.7

p.V255M

c.763G>A

Surrounding Variants

1 paper

NM_000821.7

p.V254A

c.761T>C

1 paper

NM_000821.7

p.H256Y

c.766C>T

1 paper

NM_000821.7

p.G258S

c.772G>A

1 paper

NM_000821.7

p.E248V

c.743A>T

1 paper

NM_000821.7

p.E248K

c.742G>A

1 paper

NM_000821.7

p.S246P

c.736T>C

1 paper

NM_000821.7

p.L264F

c.790C>T

1 paper

NM_000821.7

p.L264P

c.791T>C

1 paper

NM_000821.7

p.L245*

c.734T>A

1 paper

NM_000821.7

p.S265L

c.794C>T

2 papers

NM_000821.7

p.L244_L245insTG

c.730_734ins6

1 paper

NM_000821.7

p.G267A

c.800G>C