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

2 papers

NM_000821.7

p.L166W

c.497T>G

Surrounding Variants

1 paper

NM_000821.7

p.L166S

c.497T>C

1 paper

NM_000821.7

p.L163P

c.488T>C

1 paper

NM_000821.7

p.Y162F

c.485A>T

1 paper

NM_000821.7

p.L171insFs

c.512_513insC

1 paper

NM_000821.7

p.F173L

c.517T>C

1 paper

NM_000821.7

p.F173L

c.519C>G

1 paper

NM_000821.7

p.F173L

c.519C>A

1 paper

NM_000821.7

p.N159H

c.475A>C

8 papers

NM_000821.7

p.M174R

c.521T>G

1 paper

NM_000821.7

p.M174T

c.521T>C

1 paper

NM_000821.7

p.W157*

c.471G>A

1 paper

NM_000821.7

p.W157*

c.470G>A