Varaico: Literature-Extracted Genetic Variants

GABRE

81 papers

RefSeq Summary

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates th...

Pfam Domains

Neur_chan_LBDaa 71–277UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 284–500UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit epsilon

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, epsilon

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004961.4

p.Y133*

c.399C>G

Surrounding Variants

2 papers

NM_004961.4

p.Y133*

c.399C>A

1 paper

NM_004961.4

p.D128N

c.382G>A

1 paper

NM_004961.4

p.T125S

c.374C>G

1 paper

NM_004961.4

p.T125S

c.373A>T

1 paper

NM_004961.4

p.P153P

c.459G>A

1 paper

NM_004961.4

p.E167D

c.501G>T

1 paper

NM_004961.4

p.E167D

c.501G>C

1 paper

NM_004961.4

p.D192V

c.575A>T

1 paper

NM_004961.4

p.M199V

c.595A>G

1 paper

NM_004961.4

p.P210L

c.629C>T

1 paper

NM_004961.4

p.E222K

c.664G>A

1 paper

NM_004961.4

p.M223I

c.669G>T