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.Y379C

c.1136A>G

Surrounding Variants

1 paper

NM_000821.7

p.Y370_Y379ins3

c.1110_1136dup27

1 paper

NM_000821.7

p.P378L

c.1133C>T

1 paper

NM_000821.7

p.H381R

c.1142A>G

1 paper

NM_000821.7

p.F376L

c.1128C>G

1 paper

NM_000821.7

p.F376L

c.1128C>A

1 paper

NM_000821.7

p.F376L

c.1126T>C

2 papers

NM_000821.7

p.L383L

c.1149C>T

1 paper

NM_000821.7

p.T384S

c.1150A>T

1 paper

NM_000821.7

p.T384S

c.1151C>G

1 paper

NM_000821.7

p.Q374L

c.1121A>T

12 papers

NM_000821.7

p.Q374*

c.1120C>T

1 paper

NM_000821.7

p.Q385*

c.1153C>T