Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.P352A
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NDUFS2

NM_001377299.1:p.P352A

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

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Epifane-de-Assunção MC et al.

Molecular Neurobiology, 2025

Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia.

Xiao R et al.

Iscience, 2024

38414864 (PubMed )
Supplement: mmc1.pdf

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Musolf AM et al.

Communications Biology, 2023

36596879 (PubMed )
Supplement: 42003_2022_4323_MOESM7_ESM.xlsx › SData33

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5a

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0ER-01A.domain

Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer.

Lascorz J et al.

Bmc Medical Genetics, 2012

Mitogroup: continent-specific clusters of mitochondrial OXPHOS complexes based on nuclear non-synonymous polymorphisms.

Pierron D et al.

Mitochondrion, 2012

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA et al.

Brain : a Journal of Neurology, 2010

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Hinttala R et al.

Journal of Molecular Medicine (berlin, Germany), 2005

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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."