Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.M350V
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HEATR1

NM_018072.6:p.M350V

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1
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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."