Varaico: Literature-Extracted Genetic Variants

Gene:PSMD4
Variant:p.R272H
Back to variants list

PSMD4

NM_002810.4:p.R272H

Associated Papers

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

Ryffel GU

Journal of Molecular Endocrinology, 2001

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."