Varaico: Literature-Extracted Genetic Variants

GABRB3

314 papers

RefSeq Summary

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid...

Pfam Domains

Neur_chan_LBDaa 37–243UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 250–468UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit beta3

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, beta 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

13 papers

NM_000814.6

p.T281A

c.841A>G

Surrounding Variants

2 papers

NM_000814.6

p.T281S

c.841A>T

10 papers

NM_000814.6

p.T281I

c.842C>T

7 papers

NM_000814.6

p.I280F

c.838A>T

2 papers

NM_000814.6

p.T282A

c.844A>G

2 papers

NM_000814.6

p.G279R

c.835G>C

2 papers

NM_000814.6

p.V283M

c.847G>A

2 papers

NM_000814.6

p.G279R

c.835G>A

6 papers

NM_000814.6

p.L284M

c.850C>A

6 papers

NM_000814.6

p.L284R

c.851T>G

5 papers

NM_000814.6

p.L284P

c.851T>C

1 paper

NM_000814.6

p.T285K

c.854C>A

4 papers

NM_000814.6

p.T287P

c.859A>C