Tubulinopathy: genes and variants
Tubulinopathy is linked to 2 analyzed proteins (TUBA1A and TUBB2B). 103 DNA variants are known to cause it; 7 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 Tubulinopathy
TUBA1A: Tubulin alpha-1A chain
An alpha-tubulin chain that pairs with beta-tubulin to build microtubules. Microtubules provide tracks for transport and help shape dividing and migrating cells, making TUBA1A especially important for fetal brain development.
101 disease-causing and 7 uncertain variants in TUBA1A are linked to Tubulinopathy.
TUBB2B: Tubulin beta-2B chain
It contributes to neuronal microtubules needed for progenitor division, neuronal migration, axon development, and cortical organization. Heterozygous pathogenic variants cause tubulinopathy with polymicrogyria, cortical dysplasia, developmental delay, and sometimes epilepsy.
2 disease-causing and 0 uncertain variants in TUBB2B are linked to Tubulinopathy.
Known disease-causing variants in Tubulinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TUBA1A R2H | 2 | Disease-causing (★★) | |
| TUBA1A S54R | 54 | Disease-causing (★★) | |
| TUBA1A Y161D | 161 | Disease-causing (★★) | |
| TUBA1A R214H | 214 | Disease-causing (★★) | |
| TUBA1A R214L | 214 | Disease-causing (★★) | |
| TUBA1A R264C | 264 | Disease-causing (★★) | |
| TUBA1A R264G | 264 | Disease-causing (★★) | |
| TUBA1A P307S | 307 | Disease-causing (★★) | |
| TUBA1A P307L | 307 | Disease-causing (★★) | |
| TUBA1A A383D | 383 | Disease-causing (★★) | |
| TUBA1A A383V | 383 | Disease-causing (★★) | |
| TUBA1A R390C | 390 | Disease-causing (★★) | |
| TUBA1A R390G | 390 | Disease-causing (★★) | |
| TUBA1A R390H | 390 | Disease-causing (★★) | |
| TUBA1A R390P | 390 | Disease-causing (★★) | |
| TUBA1A R402S | 402 | Disease-causing (★★) | |
| TUBA1A R402H | 402 | Disease-causing (★★) | |
| TUBA1A R402L | 402 | Disease-causing (★★) | |
| TUBA1A R422C | 422 | Disease-causing (★★) | |
| TUBA1A R422H | 422 | Disease-causing (★★) | |
| TUBA1A G436D | 436 | Disease-causing (★★) | |
| TUBA1A R214C | 214 | Disease-causing (★★) | |
| TUBA1A E27Q | 27 | Disease-causing (★★) | |
| TUBA1A T51I | 51 | Disease-causing (★★) | |
| TUBA1A T56M | 56 | Disease-causing (★★) | |
| TUBA1A V118L | 118 | Disease-causing (★★) | |
| TUBA1A V118M | 118 | Disease-causing (★★) | |
| TUBA1A R123C | 123 | Disease-causing (★★) | |
| TUBA1A D127N | 127 | Disease-causing (★★) | |
| TUBA1A G142C | 142 | Disease-causing (★★) | |
| TUBA1A G142S | 142 | Disease-causing (★★) | |
| TUBA1A Q233R | 233 | Disease-causing (★★) | |
| TUBA1A A270S | 270 | Disease-causing (★★) | |
| TUBA1A A270T | 270 | Disease-causing (★★) | |
| TUBA1A Y272C | 272 | Disease-causing (★★) | |
| TUBA1A D306Y | 306 | Disease-causing (★★) | |
| TUBA1A R320H | 320 | Disease-causing (★★) | |
| TUBA1A V324L | 324 | Disease-causing (★★) | |
| TUBA1A Q342P | 342 | Disease-causing (★★) | |
| TUBA1A P359L | 359 | Disease-causing (★★) | |
| TUBA1A P364R | 364 | Disease-causing (★★) | |
| TUBA1A G366R | 366 | Disease-causing (★★) | |
| TUBA1A A369T | 369 | Disease-causing (★★) | |
| TUBA1A M377V | 377 | Disease-causing (★★) | |
| TUBA1A T382A | 382 | Disease-causing (★★) | |
| TUBA1A V409A | 409 | Disease-causing (★★) | |
| TUBA1A V409I | 409 | Disease-causing (★★) | |
| TUBA1A S419L | 419 | Disease-causing (★★) | |
| TUBA1A M425K | 425 | Disease-causing (★★) | |
| TUBB2B E410K | 410 | Disease-causing (★★) | |
| TUBA1A C25F | 25 | Disease-causing (★★) | |
| TUBA1A D47H | 47 | Disease-causing (★★) | |
| TUBA1A R64W | 64 | Disease-causing (★★) | |
| TUBA1A E90G | 90 | Disease-causing (★★) | |
| TUBA1A G95C | 95 | Disease-causing (★★) | |
| TUBA1A R123H | 123 | Disease-causing (★★) | |
| TUBA1A D199G | 199 | Disease-causing (★★) | |
| TUBA1A Y210C | 210 | Disease-causing (★★) | |
| TUBA1A T239P | 239 | Disease-causing (★★) | |
| TUBA1A F296S | 296 | Disease-causing (★★) |
Showing 60 of 103.
Same protein, different disease
- Lissencephaly due to TUBA1A mutation is also caused by TUBA1A variants; they fall in the same places as the Tubulinopathy variants (62 disease-causing).
- Tubulinopathy-associated dysgyria is also caused by TUBA1A variants; they fall in the same places as the Tubulinopathy variants (6 disease-causing).
- Complex cortical dysplasia with other brain malformations 7 is also caused by TUBB2B variants; they fall mostly in different places as the Tubulinopathy variants (23 disease-causing).
Diseases related to Tubulinopathy
- Non-small cell lung carcinoma, also linked to TUBA1A and TUBB2B
- Familial Mediterranean fever, also linked to TUBA1A and TUBB2B
- Prostate cancer, also linked to TUBA1A and TUBB2B
- Cervical cancer, also linked to TUBA1A and TUBB2B
- Autosomal recessive limb-girdle muscular dystrophy, also linked to TUBA1A
- Lissencephaly due to TUBA1A mutation, also linked to TUBA1A
- Complex cortical dysplasia with other brain malformations 7, also linked to TUBB2B
- Ovarian cancer, also linked to TUBB2B
- Gastric cancer, also linked to TUBA1A
- West syndrome, also linked to TUBA1A
- Multiple myeloma, also linked to TUBA1A
- Tubulinopathy-associated dysgyria, also linked to TUBA1A
Frequently asked questions
Which genes are linked to Tubulinopathy?
In CATVariant, Tubulinopathy is linked to 2 analyzed proteins: TUBA1A (Tubulin alpha-1A chain) and TUBB2B (Tubulin beta-2B chain).
How many genetic variants are linked to Tubulinopathy?
114 variants: 103 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Tubulinopathy 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center