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.P332A

c.994C>G

Surrounding Variants

1 paper

NM_000821.7

p.P332S

c.994C>T

1 paper

NM_000821.7

p.P332T

c.994C>A

1 paper

NM_000821.7

p.P332L

c.995C>T

1 paper

NM_000821.7

p.L330P

c.989T>C

1 paper

NM_000821.7

p.Q338R

c.1013A>G

1 paper

NM_000821.7

p.R325fs

c.973_974fs

2 papers

NM_000821.7

p.R325insFs

c.973dupC

42 papers

NM_000821.7

p.R325Q

c.974G>A

1 paper

NM_000821.7

p.R325*

c.973C>T

1 paper

NM_000821.7

p.R325G

c.973C>G

1 paper

NM_000821.7

p.P339_S340insFs

c.1017_1018insT

1 paper

NM_000821.7

p.S340C

c.1018A>T