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.L506F

c.1518G>T

Surrounding Variants

1 paper

NM_000821.7

p.L506F

c.1518G>C

1 paper

NM_000821.7

p.D508N

c.1522G>A

1 paper

NM_000821.7

p.S510P

c.1528T>C

1 paper

NM_000821.7

p.S510T

c.1528T>A

1 paper

NM_000821.7

p.V502V

c.1506G>C

1 paper

NM_000821.7

p.W512_R513insC

c.1534_1538ins3

17 papers

NM_000821.7

p.W501S

c.1502G>C

1 paper

NM_000821.7

p.S500F

c.1499C>T

1 paper

NM_000821.7

p.S500A

c.1498T>G

6 papers

NM_000821.7

p.R513K

c.1538G>A

1 paper

NM_000821.7

p.A514T

c.1540G>A

1 paper

NM_000821.7

p.A514V

c.1541C>T