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.S330_Y331del2

c.988_992del6

Surrounding Variants

1 paper

NM_198904.4

p.S330T

c.988T>A

1 paper

NM_198904.4

p.S330F

c.989C>T

3 papers

NM_198904.4

p.S330_Y331del1

c.990_992delCTA

1 paper

NM_198904.4

p.V329L

c.985G>C

4 papers

NM_198904.4

p.V329F

c.985G>T

2 papers

NM_198904.4

p.K328N

c.984G>C

2 papers

NM_198904.4

p.K328N

c.984G>T

33 papers

NM_198904.4

p.K328M

c.983A>T

2 papers

NM_198904.4

p.Y331N

c.991T>A

1 paper

NM_198904.4

p.Y331H

c.991T>C

4 papers

NM_198904.4

p.Y331C

c.992A>G

1 paper

NM_198904.4

p.P327L

c.980C>T