Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.H33P
Back to variants list

KCNA3

NM_002232.5:p.H33P

Associated Papers

Pathogenic variants in KCTD1 disrupt cAMP signaling and cellular communication associated with developmental pathways.

Liao Y et al.

The Journal of Biological Chemistry, 2025

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Butler KM et al.

Clinical Dysmorphology, 2021

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."