Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.H105R
Back to variants list

ABCC8

NM_000352.6:p.H105R

Associated Papers

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Dusatkova P et al.

Acta Diabetologica, 2022

35737141 (PubMed )
Supplement: 592_2022_1915_MOESM2_ESM.pdf

Role of the histidine residue at position 105 in the human alpha 5 containing GABA(A) receptor on the affinity and efficacy of benzodiazepine site ligands.

Kelly MD et al.

British Journal of Pharmacology, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."