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.E250*

c.748G>T

Surrounding Variants

2 papers

NM_198904.4

p.E250K

c.748G>A

1 paper

NM_198904.4

p.E250Q

c.748G>C

2 papers

NM_198904.4

p.T249A

c.745A>G

1 paper

NM_198904.4

p.V251G

c.752T>G

1 paper

NM_198904.4

p.T248A

c.742A>G

1 paper

NM_198904.4

p.V252A

c.755T>C

3 papers

NM_198904.4

p.T254I

c.761C>T

3 papers

NM_198904.4

p.T255I

c.764C>T

1 paper

NM_198904.4

p.G244D

c.731G>A

1 paper

NM_198904.4

p.S256S

c.768C>T

13 papers

NM_198904.4

p.G257R

c.769G>A

2 papers

NM_198904.4

p.V243I

c.727G>A