Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKLR

Variant:p.R486L

Back to variants list

PKLR

NM_000298.6:p.R486L

hg38:chr1:155291917 C>A

Associated Papers

The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.

Baker HA et al.

Journal of Cell Science, 2025

39618332 (PubMed )

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Pissard S et al.

British Journal of Haematology, 2006

16704447 (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."