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_198904.4

p.P365L

c.1094C>T

Surrounding Variants

10 papers

NM_198904.4

p.R363Q

c.1088G>A

2 papers

NM_198904.4

p.R363G

c.1087C>G

6 papers

NM_198904.4

p.R363W

c.1087C>T

1 paper

NM_198904.4

p.N362S

c.1085A>G

1 paper

NM_198904.4

p.N362Y

c.1084A>T

1 paper

NM_198904.4

p.K369R

c.1106A>G

2 papers

NM_198904.4

p.D370Y

c.1108G>T

2 papers

NM_198904.4

p.K371E

c.1111A>G

3 papers

NM_198904.4

p.K371T

c.1112A>C

1 paper

NM_198904.4

p.K371R

c.1112A>G

1 paper

NM_198904.4

p.F359fs

c.1075_1076fs

2 papers

NM_198904.4

p.K372R

c.1115A>G