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

1 paper

NM_004961.4

p.L16I

c.46C>A

Surrounding Variants

1 paper

NM_004961.4

p.V8delFs

c.23delA

1 paper

NM_004961.4

p.P7R

c.20C>G

3 papers

NM_004961.4

p.M1V

c.1A>G

3 papers

NM_004961.4

p.Y38C

c.113A>G

2 papers

NM_004961.4

p.Y38S

c.113A>C

2 papers

NM_004961.4

p.E52K

c.154G>A

1 paper

NM_004961.4

p.E52E

c.156G>A

1 paper

NM_004961.4

p.G62G

c.186G>A

2 papers

NM_004961.4

p.G66S

c.196G>A

1 paper

NM_004961.4

p.S72P

c.214T>C

2 papers

NM_004961.4

p.R87C

c.259C>T

1 paper

NM_004961.4

p.R87H

c.260G>A