Varaico: Literature-Extracted Genetic Variants

GABRP

62 papers

RefSeq Summary

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this g...

Pfam Domains

Neur_chan_LBDaa 40–242UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 249–278UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit pi

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, pi

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014211.3

p.V282A

c.845T>C

Surrounding Variants

1 paper

NM_014211.3

p.T280M

c.839C>T

1 paper

NM_014211.3

p.T287P

c.859A>C

2 papers

NM_014211.3

p.G291R

c.871G>A

2 papers

NM_014211.3

p.G291R

c.871G>C

2 papers

NM_014211.3

p.S292P

c.874T>C

3 papers

NM_014211.3

p.R293C

c.877C>T

1 paper

NM_014211.3

p.D307N

c.919G>A

2 papers

NM_014211.3

p.G311R

c.931G>A

2 papers

NM_014211.3

p.G311R

c.931G>C

1 paper

NM_014211.3

p.F318Y

c.953T>A

1 paper

NM_014211.3

p.E323K

c.967G>A

1 paper

NM_014211.3

p.D339H

c.1015G>C