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.F116F

c.348T>C

Surrounding Variants

1 paper

NM_198904.4

p.F117V

c.349T>G

1 paper

NM_198904.4

p.F116fs

c.346_347fs

2 papers

NM_198904.4

p.F117insFs

c.351dupT

1 paper

NM_198904.4

p.I115I

c.345A>T

1 paper

NM_198904.4

p.F117L

c.351T>A

1 paper

NM_198904.4

p.A118_W121del0

c.352_363del12

1 paper

NM_198904.4

p.A118S

c.352G>T

1 paper

NM_198904.4

p.A118fs

c.352_353fs

1 paper

NM_198904.4

p.I115R

c.344T>G

1 paper

NM_198904.4

p.I115Fs

c.345delinsAAFs

1 paper

NM_198904.4

p.I115L

c.343A>T

1 paper

NM_198904.4

p.A118G

c.353C>G