Concepedia

Nonsynonymous Mutations

Nonsynonymous Mutation is a type of point mutation in a gene's coding region that alters the nucleotide sequence in a way that results in the substitution of one amino acid for another in the encoded protein, thereby potentially affecting the protein's structure or function.

863

Publications

61.6K

Citations

7.6K

Authors

1.9K

Institutions

Publications per year

2017–2026

305

Variants

Nonsynonymous MutationReplacement MutationReplacement Mutations

Parents

Publications

863

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text

, , +17

Spiroindolones, a Potent Compound Class for the Treatment of Malaria

Matthias Rottmann, Case W. McNamara, Bryan K. S. Yeung et al. · Science · 2010 · 1.2K citations · Full text

, , +16

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

Jonathan C. Cohen, Robert S. Kiss, Alexander Pertsemlidis et al. · Science · 2004 · 1.1K citations

, , +15

Identification of functionally variant MDR1 alleles among European Americans and African Americans

Ryeo Won Kim · Clinical Pharmacology & Therapeutics · 2001 · 1K citations

, , +13

Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

Jens G. Lohr, Petar Stojanov, Michael S. Lawrence et al. · Proceedings of the National Academy of Sciences · 2012 · 980 citations · Full text

, , +17

1–5 of 863

Authors

7.6K

  1. BC
    Brian Charlesworth

    University of Edinburgh, United Kingdom

    9 publications · 654 citations

    9

    h-index

  2. PF
    Philippe Froguel

    Institut Pasteur de Lille, France

    7 publications · 1K citations

    7

    h-index

  3. JX
    Joanne Xiu

    Caris Life Sciences (United States), United States

    7 publications · 381 citations

    7

    h-index

  4. KE
    Kirk E. Lohmueller

    University of California, Los Angeles, United States

    6 publications · 634 citations

    6

    h-index

  5. SO
    Stephen O’Rahilly

    University of Cambridge, United Kingdom

    5 publications · 517 citations

    5

    h-index

1–5 of 7.6K

Institutions

1.9K

  1. Harvard University

    Cambridge, United States

    26 h-index

    157 publications

    17.8K citations

  2. Centre National de la Recherche Scientifique

    Paris, France

    23 h-index

    111 publications

    8.6K citations

  3. Johns Hopkins University

    Baltimore, United States

    19 h-index

    89 publications

    6.8K citations

  4. National Institutes of Health

    Bethesda, United States

    19 h-index

    118 publications

    12K citations

  5. University of California, San Francisco

    San Francisco, United States

    17 h-index

    53 publications

    5.4K citations

  6. University of Oxford

    Oxford, United Kingdom

    17 h-index

    66 publications

    7.7K citations

  7. Inserm

    Paris, France

    17 h-index

    94 publications

    11.8K citations

  8. Massachusetts General Hospital

    Boston, United States

    15 h-index

    83 publications

    9.9K citations

1–8 of 1.9K

Venues

  1. Proceedings of the National Academy of Sciences

    PNAS · 27 publications · 5.4K citations

    26

    h-index

  2. Antimicrobial Agents and Chemotherapy

    AAC · 25 publications · 1.7K citations

    23

    h-index

  3. Molecular Biology and Evolution

    MBE · 28 publications · 1.4K citations

    23

    h-index

  4. Journal of Virology

    JVI · 27 publications · 2K citations

    23

    h-index

  5. Human Mutation

    28 publications · 2K citations

    22

    h-index

1–5