In genomes, three letters or bases of DNA encode an amino acid. Amino acids are then strung together by the cell to create proteins. There is some redundancy in that genetic code, but there are single ...

Mapping diverse mutations within a cancer hotspot revealed that distinct variants drive tumor growth to different extents, which could guide anticancer therapies.

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...

Study results indicate that mutation strength may shape both tumor–immune system interactions and immunotherapy response.

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

The rare hereditary fibrinogen disorder hypodysfibrinogenemia is characterized by fibrinogen defects, which can cause thrombotic and hemorrhagic phenotypes that are not always predicted by routine ...