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.G125E

c.374G>A

Surrounding Variants

6 papers

NM_000821.7

p.G125R

c.373G>C

6 papers

NM_000821.7

p.G125R

c.373G>A

1 paper

NM_000821.7

p.A126P

c.376G>C

1 paper

NM_000821.7

p.M129V

c.385A>G

1 paper

NM_000821.7

p.M130V

c.388A>G

1 paper

NM_000821.7

p.G132D

c.395G>A

4 papers

NM_000821.7

p.C134F

c.401G>T

1 paper

NM_000821.7

p.Y135H

c.403T>C

2 papers

NM_000821.7

p.R136W

c.406C>T

1 paper

NM_000821.7

p.R136G

c.406C>G

1 paper

NM_000821.7

p.R136Q

c.407G>A

1 paper

NM_000821.7

p.I137T

c.410T>C