Varaico: Literature-Extracted Genetic Variants

Gene:HACE1
Variant:p.M272_L273Splc
Back to variants list

HACE1

NM_020771.4:p.M272_L273Splc

Associated Papers

In silico assessment of DNA damage response gene variants associated with head and neck cancer.

Das R et al.

Journal of Biomolecular Structure & Dynamics, 2023

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M et al.

The International Journal of Neuroscience, 2019

30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.

Slade I et al.

Journal of Medical Genetics, 2010

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."