Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.D180N
Back to variants list

KIF1A

NM_001244008.2:p.D180N

Associated Papers

De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors.

Anazawa Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

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."