Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFG3L2

Variant:p.S656delFs

Back to variants list

AFG3L2

NM_006796.3:p.S656delFs

hg38:chr18:12340213 ACT>A

Associated Papers

Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.

Cortés-Rojas MC et al.

Movement Disorders Clinical Practice, 2025

40260968 (PubMed )

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."