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.F310L

c.928T>C

Surrounding Variants

3 papers

NM_000821.7

p.L309L

c.927C>T

1 paper

NM_000821.7

p.F310L

c.930C>G

1 paper

NM_000821.7

p.F310L

c.930C>A

1 paper

NM_000821.7

p.C311S

c.931T>A

1 paper

NM_000821.7

p.P308P

c.924T>C

1 paper

NM_000821.7

p.C311S

c.932G>C

2 papers

NM_000821.7

p.P313fs

c.937_938fs

1 paper

NM_000821.7

p.P313S

c.937C>T

1 paper

NM_000821.7

p.S306R

c.918C>G

1 paper

NM_000821.7

p.S306R

c.918C>A

3 papers

NM_000821.7

p.P313delFs

c.938_939delAG

1 paper

NM_000821.7

p.S306G

c.916A>G