Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.T125S
Back to variants list

PHGDH

NM_006623.4:p.T125S

Associated Papers

Transcriptional regulation by PHGDH drives amyloid pathology in Alzheimer's disease.

Chen J et al.

Cell, 2025

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.

Eade K et al.

Nature Metabolism, 2021

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Tabatabaie L et al.

Human Mutation, 2009

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."