Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.G551E
Back to variants list

HTT

NM_001388492.1:p.G551E

Associated Papers

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage.

Lemarié FL et al.

Frontiers in Physiology, 2023

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report.

Wang B et al.

Experimental and Therapeutic Medicine, 2018

[A case of infantile neuroaxonal dystrophy].

Wu Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

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."