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

1 paper

NM_000814.6

p.M286_T287delins

c.858_859delinsTT

Surrounding Variants

4 papers

NM_000814.6

p.T287P

c.859A>C

14 papers

NM_000814.6

p.T287I

c.860C>T

2 papers

NM_000814.6

p.T287K

c.860C>A

3 papers

NM_000814.6

p.T288A

c.862A>G

4 papers

NM_000814.6

p.T288I

c.863C>T

9 papers

NM_000814.6

p.T288N

c.863C>A

1 paper

NM_000814.6

p.T285K

c.854C>A

1 paper

NM_000814.6

p.I289L

c.865A>C

2 papers

NM_000814.6

p.I289T

c.866T>C

6 papers

NM_000814.6

p.L284R

c.851T>G

5 papers

NM_000814.6

p.L284P

c.851T>C

6 papers

NM_000814.6

p.L284M

c.850C>A