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.S275L

c.824C>T

Surrounding Variants

1 paper

NM_000821.7

p.R276S

c.828A>T

1 paper

NM_000821.7

p.R276S

c.828A>C

5 papers

NM_000821.7

p.S277C

c.830C>G

1 paper

NM_000821.7

p.I278T

c.833T>C

1 paper

NM_000821.7

p.F271V

c.811T>G

1 paper

NM_000821.7

p.L270P

c.809T>C

1 paper

NM_000821.7

p.F281L

c.841T>C

1 paper

NM_000821.7

p.F281L

c.843C>G

1 paper

NM_000821.7

p.F281L

c.843C>A

1 paper

NM_000821.7

p.V283L

c.847G>T

1 paper

NM_000821.7

p.V283L

c.847G>C

1 paper

NM_000821.7

p.G267A

c.800G>C