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.V411L

c.1231G>T

Surrounding Variants

1 paper

NM_000821.7

p.V411L

c.1231G>C

1 paper

NM_000821.7

p.V411M

c.1231G>A

1 paper

NM_000821.7

p.V411insFs

c.1232_1233insAG

2 papers

NM_000821.7

p.H410P

c.1229A>C

1 paper

NM_000821.7

p.K412E

c.1234A>G

1 paper

NM_000821.7

p.Q409R

c.1226A>G

1 paper

NM_000821.7

p.I413T

c.1238T>C

3 papers

NM_000821.7

p.H408Q

c.1224C>G

3 papers

NM_000821.7

p.H408Q

c.1224C>A

1 paper

NM_000821.7

p.I413M

c.1239C>G

2 papers

NM_000821.7

p.T414T

c.1242C>T

1 paper

NM_000821.7

p.S407A

c.1219T>G