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

1–12 of 52 variants

5 papers

NM_014211.3

p.F391L

c.1171T>C

5 papers

NM_014211.3

p.F391L

c.1173C>A

5 papers

NM_014211.3

p.F391L

c.1173C>G

3 papers

NM_014211.3

p.N55S

c.164A>G

3 papers

NM_014211.3

p.R293C

c.877C>T

2 papers

NM_014211.3

p.V10M

c.28G>A

2 papers

NM_014211.3

p.S78T

c.233G>C

2 papers

NM_014211.3

p.R141C

c.421C>T

2 papers

NM_014211.3

p.A151S

c.451G>T

2 papers

NM_014211.3

p.R200H

c.599G>A

2 papers

NM_014211.3

p.R214W

c.640C>T

2 papers

NM_014211.3

p.G291R

c.871G>A