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Article

Domain altering SNPs in the human proteome and their impact on signaling pathways.

PloS one - 23 Sept 2010

Liu Yichuan, Tozeren Aydin

Abstract excerpt

Single nucleotide polymorphisms (SNPs) constitute an important mode of genetic variations observed in the human genome. A small fraction of SNPs, about four thousand out of the ten million, has been associated with genetic disorders and complex diseases. The present study focuses on SNPs that fall on protein domains, 3D structures that facilitate connectivity of proteins in cell signaling and metabolic pathways....

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Share to Databases, Protein
Share to Genetic Diseases, Inborn
Share to Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Protein Structure, Tertiary

Share to Proteins

Share to Proteome

Share to Signal Transduction

Source

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Identifiers

PMID: 20886114
DOI: 10.1371/journal.pone.0012890
PMCID: PMC2944825

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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