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.R89L

c.266G>T

Surrounding Variants

1 paper

NM_014211.3

p.R89Q

c.266G>A

1 paper

NM_014211.3

p.R89*

c.265C>T

1 paper

NM_014211.3

p.Y82H

c.244T>C

1 paper

NM_014211.3

p.V98G

c.293T>G

1 paper

NM_014211.3

p.A109V

c.326C>T

2 papers

NM_014211.3

p.R141C

c.421C>T

1 paper

NM_014211.3

p.R141L

c.422G>T

2 papers

NM_014211.3

p.A151S

c.451G>T

1 paper

NM_014211.3

p.R153K

c.458G>A

1 paper

NM_014211.3

p.M80_D81Splc

c.240+5G>A

1 paper

NM_014211.3

p.N79S

c.236A>G

2 papers

NM_014211.3

p.S78T

c.233G>C