Overview

Location [1]
5q34
Protein [2]
Gamma-aminobutyric acid receptor subunit alpha-6
Synonyms [1]
-

Gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6) is a gene that encodes a receptor of the GABA inhibitory neurotransmitter. Missense mutations, synonymous mutations, frameshift deletions, and nonsense mutations are observed in cancers such as skin cancer, stomach cancer, and endometrial cancer.

GABRA6 is altered in 2.52% of all cancers with lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, breast invasive ductal carcinoma, and melanoma having the greatest prevalence of alterations [3].

GABRA6 GENIE Cases - Top Diseases

The most common alterations in GABRA6 are GABRA6 A2V (0.12%), GABRA6 D209N (0.12%), GABRA6 D418H (0.10%), GABRA6 E22K (0.12%), and GABRA6 H369Y (0.10%) [3].

GABRA6 GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.