SOX10 (Transcription factor SOX-10) variants and mutations

SOX10 (also known as Transcription factor SOX-10) is a human protein-coding gene encoding a transcription factor SOX-10 protein. A transcription factor that guides development of neural-crest lineages, including melanocytes, Schwann cells, and enteric neurons. Variants can cause Waardenburg syndrome, sometimes with Hirschsprung disease. This analysis covers 1,012 SOX10 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes PCWH syndrome, Waardenburg syndrome type 2E, and Neurologic Waardenburg-Shah syndrome. Example SOX10 variants include M1?, A2V, and E3*.

Variant analysis overview

Gene: SOX10
Protein: Transcription factor SOX-10
UniProt accession: P56693
Organism: Homo sapiens
Variants analyzed: 1012
Variant scope: all variants
Completed: 2026-08-28

Variant and mutation evidence

Variant composition: 682 unspecified-consequence records; 2 stop lost; 138 synonymous variants; 179 missense variants; 2 stop-gained variants; 1 stop retained variant; 3 in-frame deletions; 2 in-frame insertions; 4 frameshift variants; 2 splice-region variants; 4 substitution
Prediction scores: 733 variants have prediction scores (72% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: PCWH syndrome, Waardenburg syndrome type 2E, Neurologic Waardenburg-Shah syndrome, Waardenburg syndrome type 4C, Waardenburg syndrome, Waardenburg-Shah syndrome, deaf blind hypopigmentation syndrome, Yemenite type, neurodegenerative disease, Waardenburg syndrome type 1, hereditary disease, Kallmann syndrome, Rare genetic deafness.

Protein structure and variant hotspots

Protein features: 1 post-translational modification sites.
PTM context: 3 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to SOX10

Notable SOX10 variants

Examples include M1?, A2V, E3*, E4K, E4V, Q5*, Q5E, Q5H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

SOX10 analysis run — SOX10 (1,012 variants) — completed 2026-08-28