Varaico: Literature-Extracted Genetic Variants

GABRR2

44 papers

RefSeq Summary

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this ge...

Pfam Domains

Neur_chan_LBDaa 55–261UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 268–461UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit rho2

HGNC Previous Name

gamma-aminobutyric acid (GABA) receptor, rho 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002043.5

p.L398P

c.1193T>C

Surrounding Variants

1 paper

NM_002043.5

p.R394K

c.1181G>A

1 paper

NM_002043.5

p.E402fs

c.1204_1205fs

5 papers

NM_002043.5

p.T430M

c.1289C>T

3 papers

NM_002043.5

p.R433H

c.1298G>A

1 paper

NM_002043.5

p.H439fs

c.1315_1316fs

1 paper

NM_002043.5

p.H439insFs

c.1316dupA

1 paper

NM_002043.5

p.N457S

c.1370A>G

1 paper

NM_002043.5

p.I459M

c.1377T>G

1 paper

NM_002043.5

p.E361*

c.1081G>T

1 paper

NM_002043.5

p.L359P

c.1076T>C

1 paper

NM_002043.5

p.A343V

c.1028C>T

1 paper

NM_002043.5

p.V335M

c.1003G>A