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

1–12 of 73 variants

13 papers

NM_004961.4

p.S102A

c.304T>G

5 papers

NM_004961.4

p.R472H

c.1415G>A

3 papers

NM_004961.4

p.M1V

c.1A>G

3 papers

NM_004961.4

p.Y38C

c.113A>G

3 papers

NM_004961.4

p.R452G

c.1354C>G

3 papers

NM_004961.4

p.S484L

c.1451C>T

2 papers

NM_004961.4

p.Y38S

c.113A>C

2 papers

NM_004961.4

p.E52K

c.154G>A

2 papers

NM_004961.4

p.G66S

c.196G>A

2 papers

NM_004961.4

p.R87C

c.259C>T

2 papers

NM_004961.4

p.Y133*

c.399C>G

2 papers

NM_004961.4

p.Y133*

c.399C>A