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.I147V

c.439A>G

Surrounding Variants

2 papers

NM_198904.4

p.W146*

c.438G>A

2 papers

NM_198904.4

p.W146*

c.437G>A

1 paper

NM_198904.4

p.W146R

c.436T>A

1 paper

NM_198904.4

p.I145M

c.435C>G

1 paper

NM_198904.4

p.I145N

c.434T>A

2 papers

NM_198904.4

p.D149H

c.445G>C

2 papers

NM_198904.4

p.K144N

c.432A>C

2 papers

NM_198904.4

p.K144N

c.432A>T

2 papers

NM_198904.4

p.D149E

c.447C>A

2 papers

NM_198904.4

p.D149E

c.447C>G

2 papers

NM_198904.4

p.K144E

c.430A>G

1 paper

NM_198904.4

p.K144fs

c.430_431fs