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.F142L

c.426C>A

Surrounding Variants

1 paper

NM_000821.7

p.F142L

c.426C>G

1 paper

NM_000821.7

p.F142L

c.424T>C

3 papers

NM_000821.7

p.L144L

c.430C>T

1 paper

NM_000821.7

p.P145L

c.434C>T

1 paper

NM_000821.7

p.C139W

c.417T>G

1 paper

NM_000821.7

p.I137T

c.410T>C

1 paper

NM_000821.7

p.R136Q

c.407G>A

2 papers

NM_000821.7

p.R136W

c.406C>T

1 paper

NM_000821.7

p.R136G

c.406C>G

1 paper

NM_000821.7

p.Y135H

c.403T>C

1 paper

NM_000821.7

p.V149_F150delFs

c.447_448delAC

4 papers

NM_000821.7

p.C134F

c.401G>T