Varaico: Literature-Extracted Genetic Variants

GABRG2

349 papers

RefSeq Summary

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

Pfam Domains

Neur_chan_LBDaa 44–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_LBDaa 66–220UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–447UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 348–439UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit gamma2

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, gamma 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001375343.1

p.E257K

c.769G>A

Surrounding Variants

4 papers

NM_198904.4

p.E217G

c.650A>G

2 papers

NM_198904.4

p.I218F

c.652A>T

7 papers

NM_198904.4

p.I218S

c.653T>G

6 papers

NM_198904.4

p.R215H

c.644G>A

4 papers

NM_198904.4

p.R215P

c.644G>C

2 papers

NM_198904.4

p.R215L

c.644G>T

1 paper

NM_198904.4

p.R215delins

c.644_645delinsAG

2 papers

NM_198904.4

p.R215S

c.643C>A

2 papers

NM_198904.4

p.R215C

c.643C>T

1 paper

NM_198904.4

p.V219I

c.655G>A

1 paper

NM_198904.4

p.V219A

c.656T>C

2 papers

NM_198904.4

p.P214S

c.640C>T