Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTPBP3

Variant:p.N291I

Back to variants list

GTPBP3

NM_133644.4:p.N291I

hg38:chr19:17339234 A>T

Associated Papers

Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.

Li Q et al.

Genes & Diseases, 2025

39397867 (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."