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

19 papers

NM_198904.4

p.P282S

c.844C>T

NM_198903.2

p.P322S

c.964C>T

Surrounding Variants

9 papers

NM_198904.4

p.P282T

c.844C>A

3 papers

NM_198904.4

p.P282A

c.844C>G

1 paper

NM_198904.4

p.I281V

c.841A>G

1 paper

NM_198904.4

p.I281F

c.841A>T

1 paper

NM_198904.4

p.C283fs

c.847_848fs

1 paper

NM_001375343.1

p.C323Y

c.968G>A

1 paper

NM_198904.4

p.Y280*

c.840T>A

1 paper

NM_198904.4

p.Y280*

c.840T>G

2 papers

NM_198904.4

p.T284A

c.850A>G

2 papers

NM_198904.4

p.Y280D

c.838T>G

1 paper

NM_198904.4

p.T284K

c.851C>A

2 papers

NM_198904.4

p.T279I

c.836C>T