Varaico: Literature-Extracted Genetic Variants

GABRA1

331 papers

RefSeq Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride cha...

Pfam Domains

Neur_chan_LBDaa 42–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–366UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 342–439UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha1

HGNC Alias Symbol

EJM5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001127644.2

p.L296F

c.888G>T

Surrounding Variants

6 papers

NM_001127644.2

p.L296F

c.888G>C

5 papers

NM_001127644.2

p.S297R

c.889A>C

1 paper

NM_001127644.2

p.L296S

c.887T>C

1 paper

NM_001127644.2

p.S297N

c.890G>A

1 paper

NM_001127644.2

p.S297T

c.890G>C

5 papers

NM_001127644.2

p.S297R

c.891C>A

5 papers

NM_001127644.2

p.S297R

c.891C>G

1 paper

NM_001127644.2

p.I298V

c.892A>G

7 papers

NM_001127644.2

p.T295I

c.884C>T

5 papers

NM_001127644.2

p.S299R

c.895A>C

1 paper

NM_001127644.2

p.T294K

c.881C>A

6 papers

NM_001127644.2

p.T294R

c.881C>G