Thyroid cancer, nonmedullary, 2: genes and variants
Thyroid cancer, nonmedullary, 2 is linked to 3 analyzed proteins (HRAS, NKX2-1 and PTEN). 4 DNA variants are known to cause it; 6 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: thyroid cancer, nonmedullary, 1
Genes linked to Thyroid cancer, nonmedullary, 2
HRAS: GTPase HRas
Its GTP-bound state activates RAF-MEK-ERK and other pathways downstream of growth-factor receptors. Somatic activating variants drive several cancers, while germline activating variants cause Costello syndrome.
3 disease-causing and 6 uncertain variants in HRAS are linked to Thyroid cancer, nonmedullary, 2.
NKX2-1: Homeobox protein Nkx-2.1
It controls developmental and tissue-specific gene programs in lung, thyroid, and basal ganglia. Haploinsufficiency causes brain-lung-thyroid syndrome, variably combining chorea or developmental movement disorder, neonatal respiratory disease, and thyroid dysfunction.
1 disease-causing and 0 uncertain variants in NKX2-1 are linked to Thyroid cancer, nonmedullary, 2.
PTEN: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
A lipid and protein phosphatase that removes phosphate groups from signaling molecules, especially PIP3. By opposing the PI3K-AKT pathway, it limits cell growth and survival signals, and PTEN variants are associated with Cowden syndrome and multiple cancers.
0 disease-causing and 0 uncertain variants in PTEN are linked to Thyroid cancer, nonmedullary, 2.
Known disease-causing variants in Thyroid cancer, nonmedullary, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HRAS G12C | 12 | Disease-causing (★★) | |
| HRAS G13D | 13 | Disease-causing (★★) | |
| HRAS Q61R | 61 | Disease-causing (★★) | |
| NKX2-1 R161L | 161 | Homeobox | Disease-causing (★★) |
Same protein, different disease
- Costello syndrome is also caused by HRAS variants; they fall partly in the same places as the Thyroid cancer, nonmedullary, 2 variants (15 disease-causing).
- RASopathy is also caused by HRAS variants; they fall in the same places as the Thyroid cancer, nonmedullary, 2 variants (6 disease-causing).
- Large congenital melanocytic nevus is also caused by HRAS variants; they fall in the same places as the Thyroid cancer, nonmedullary, 2 variants (5 disease-causing).
- Epidermal nevus is also caused by HRAS variants; they fall in the same places as the Thyroid cancer, nonmedullary, 2 variants (3 disease-causing).
- Brain-lung-thyroid syndrome is also caused by NKX2-1 variants; they fall mostly in different places as the Thyroid cancer, nonmedullary, 2 variants (14 disease-causing).
- Benign hereditary chorea is also caused by NKX2-1 variants; they fall mostly in different places as the Thyroid cancer, nonmedullary, 2 variants (4 disease-causing).
Diseases related to Thyroid cancer, nonmedullary, 2
- Hypertrophic cardiomyopathy, also linked to HRAS
- RASopathy, also linked to HRAS
- Noonan syndrome, also linked to HRAS
- PTEN hamartoma tumor syndrome, also linked to PTEN
- Cowden syndrome, also linked to PTEN
- Noonan syndrome and Noonan-related syndrome, also linked to HRAS
- Familial cancer of breast, also linked to PTEN
- Malignant tumor of urinary bladder, also linked to HRAS
- Costello syndrome, also linked to HRAS
- Brain-lung-thyroid syndrome, also linked to NKX2-1
- Macrocephaly-autism syndrome, also linked to PTEN
- Glioma susceptibility 1, also linked to PTEN
Frequently asked questions
Which genes are linked to Thyroid cancer, nonmedullary, 2?
In CATVariant, Thyroid cancer, nonmedullary, 2 is linked to 3 analyzed proteins: HRAS (GTPase HRas), NKX2-1 (Homeobox protein Nkx-2.1) and PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN).
How many genetic variants are linked to Thyroid cancer, nonmedullary, 2?
18 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thyroid cancer, nonmedullary, 2 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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