Varaico: Literature-Extracted Genetic Variants

Gene:NAA10
Variant:p.Q129P
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NAA10

NM_003491.4:p.Q129P

Associated Papers

Conformational plasticity links structural instability of NAA10F128I and NAA10F128L mutants to their catalytic deregulation.

Saha S et al.

Computational and Structural Biotechnology Journal, 2024

39610905 (PubMed )
Supplement: mmc1.pdf

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Lyon GJ et al.

European Journal of Human Genetics : Ejhg, 2023

37130971 (PubMed )
Supplement: 41431_2023_1368_MOESM2_ESM.xlsx › NAA10

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

McTiernan N et al.

Human Genetics, 2022

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