Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:D2HGDH

Variant:p.L214delFs

Back to variants list

D2HGDH

NM_152783.5:p.L214delFs

hg38:chr2:241743771 CT>C

Associated Papers

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Pop A et al.

Human Mutation, 2019

30908763 (PubMed )

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M et al.

Human Mutation, 2010

20020533 (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."