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.V502F

c.1504G>T

Surrounding Variants

1 paper

NM_004961.4

p.L501F

c.1501C>T

3 papers

NM_004961.4

p.S484L

c.1451C>T

5 papers

NM_004961.4

p.R472H

c.1415G>A

1 paper

NM_004961.4

p.G471A

c.1412G>C

2 papers

NM_004961.4

p.M459L

c.1375A>T

2 papers

NM_004961.4

p.M459L

c.1375A>C

2 papers

NM_004961.4

p.R452L

c.1355G>T

1 paper

NM_004961.4

p.R452H

c.1355G>A

3 papers

NM_004961.4

p.R452G

c.1354C>G

1 paper

NM_004961.4

p.C447S

c.1340G>C

1 paper

NM_004961.4

p.C447S

c.1339T>A

1 paper

NM_004961.4

p.L444P

c.1331T>C