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

21 papers

NM_000821.7

p.R485P

c.1454G>C

Surrounding Variants

1 paper

NM_000821.7

p.R485H

c.1454G>A

1 paper

NM_000821.7

p.R485C

c.1453C>T

1 paper

NM_000821.7

p.P484L

c.1451C>T

2 papers

NM_000821.7

p.P484S

c.1450C>T

1 paper

NM_000821.7

p.V489L

c.1465G>T

1 paper

NM_000821.7

p.V489L

c.1465G>C

2 papers

NM_000821.7

p.V489M

c.1465G>A

1 paper

NM_000821.7

p.I481N

c.1442T>A

1 paper

NM_000821.7

p.R480G

c.1438A>G

1 paper

NM_000821.7

p.A492S

c.1474G>T

1 paper

NM_000821.7

p.A492T

c.1474G>A

5 papers

NM_000821.7

p.W493S

c.1478G>C