Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HECTD1

Variant:p.R371G

Back to variants list

HECTD1

NM_015382.4:p.R371G

hg38:chr14:31173201 G>C

Associated Papers

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Zerafati-Jahromi G et al.

American Journal of Human Genetics, 2025

39879987 (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."