SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC: genes and variants
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC is linked to 1 analyzed protein (FAS). 3 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
FAS: Tumor necrosis factor receptor superfamily member 6
Its engagement by FAS ligand assembles a death-inducing signaling complex that triggers caspase-mediated apoptosis, particularly in activated lymphocytes. Loss-of-function variants can cause autoimmune lymphoproliferative syndrome by preventing normal contraction of immune responses.
3 disease-causing and 0 uncertain variants in FAS are linked to SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC.
Known disease-causing variants in SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FAS C178R | 178 | Transmembrane | Disease-causing |
| FAS N118S | 118 | TNFR-Cys 2 | Disease-causing |
| FAS N255D | 255 | Death | Disease-causing |
Same protein, different disease
- Autoimmune lymphoproliferative syndrome is also caused by FAS variants; they fall mostly in different places as the SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC variants (21 disease-causing).
- FAS-related autoimmune lymphoproliferative syndrome is also caused by FAS variants; they fall mostly in different places as the SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC variants (4 disease-causing).
Diseases related to SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
- Autoimmune lymphoproliferative syndrome, also linked to FAS
Frequently asked questions
Which genes are linked to SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC?
In CATVariant, SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC is linked to 1 analyzed protein: FAS (Tumor necrosis factor receptor superfamily member 6).
How many genetic variants are linked to SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC?
3 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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