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

5 papers

NM_014211.3

p.F391L

c.1171T>C

Surrounding Variants

5 papers

NM_014211.3

p.F391L

c.1173C>A

5 papers

NM_014211.3

p.F391L

c.1173C>G

1 paper

NM_014211.3

p.D389N

c.1165G>A

1 paper

NM_014211.3

p.S375G

c.1123A>G

1 paper

NM_014211.3

p.P411R

c.1232C>G

2 papers

NM_014211.3

p.H416R

c.1247A>G

1 paper

NM_014211.3

p.H416Q

c.1248C>A

1 paper

NM_014211.3

p.H416Q

c.1248C>G

2 papers

NM_014211.3

p.V349A

c.1046T>C

1 paper

NM_014211.3

p.E347V

c.1040A>T

1 paper

NM_014211.3

p.D339H

c.1015G>C

1 paper

NM_014211.3

p.E323K

c.967G>A