Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3C2B

Variant:p.D229G

Back to variants list

PIK3C2B

NM_001377334.1:p.D229G

hg38:chr1:204469117 T>C

Associated Papers

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Gozzelino L et al.

Brain : a Journal of Neurology, 2022

35786744 (PubMed )

Supplement: awac082_supplementary_data.zip › brain-2021-01683-File010.pdf

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."