Cervical cancer: genes and variants
Cervical cancer is linked to 6 analyzed proteins (FGFR3, PDCD1, TOP1, TUBA1A, TUBB2B and TUBB3). 1 DNA variants are known to cause it; 1 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 Cervical cancer
FGFR3: Fibroblast growth factor receptor 3
It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors.
1 disease-causing and 1 uncertain variants in FGFR3 are linked to Cervical cancer.
PDCD1: Programmed cell death protein 1
PDCD1 is an inhibitory receptor on activated T cells that binds PD-L1 and PD-L2. Its signaling helps maintain immune tolerance by restraining T-cell activation, making the protein important in autoimmunity and cancer immunotherapy.
0 disease-causing and 0 uncertain variants in PDCD1 are linked to Cervical cancer.
TOP1: DNA topoisomerase 1
It relieves torsional strain in DNA by creating and resealing transient single-strand breaks during replication and transcription. Trapping of the cleavage intermediate is the mechanism exploited by topoisomerase I inhibitors such as irinotecan and topotecan in cancer therapy.
0 disease-causing and 0 uncertain variants in TOP1 are linked to Cervical cancer.
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.
0 disease-causing and 0 uncertain variants in TUBA1A are linked to Cervical cancer.
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.
0 disease-causing and 0 uncertain variants in TUBB2B are linked to Cervical cancer.
TUBB3: Tubulin beta-3 chain
It forms neuronal microtubules required for axon growth, guidance, and intracellular transport. Heterozygous pathogenic variants can cause congenital fibrosis of the extraocular muscles type 3 and broader tubulinopathy phenotypes with brain and cranial-nerve abnormalities.
0 disease-causing and 0 uncertain variants in TUBB3 are linked to Cervical cancer.
Weakly linked (only a few uncertain records): HLA-DPA1.
Known disease-causing variants in Cervical cancer
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR3 G370C | 370 | Extracellular | Disease-causing (★★) |
Same protein, different disease
- FGFR3-related chondrodysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Cervical cancer variants (20 disease-causing).
- Hypochondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Cervical cancer variants (15 disease-causing).
- Achondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Cervical cancer variants (9 disease-causing).
- Thanatophoric dysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Cervical cancer variants (8 disease-causing).
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is also caused by FGFR3 variants; they fall mostly in different places as the Cervical cancer variants (5 disease-causing).
Diseases related to Cervical cancer
- Non-small cell lung carcinoma, also linked to PDCD1, TOP1, TUBA1A, TUBB2B and 1 more
- Ovarian cancer, also linked to TOP1, TUBB2B and TUBB3
- Familial Mediterranean fever, also linked to TUBA1A, TUBB2B and TUBB3
- Prostate cancer, also linked to TUBA1A, TUBB2B and TUBB3
- Tubulinopathy, also linked to TUBA1A and TUBB2B
- Complex cortical dysplasia with other brain malformations 7, also linked to TUBB2B and TUBB3
- Colorectal cancer, also linked to FGFR3 and TOP1
- Gastric cancer, also linked to PDCD1 and TUBA1A
- Myocardial infarction, also linked to TUBB2B and TUBB3
- Renal cell carcinoma, also linked to FGFR3 and PDCD1
- Autosomal recessive limb-girdle muscular dystrophy, also linked to TUBA1A
- Lissencephaly due to TUBA1A mutation, also linked to TUBA1A
Frequently asked questions
Which genes are linked to Cervical cancer?
In CATVariant, Cervical cancer is linked to 6 analyzed proteins: FGFR3 (Fibroblast growth factor receptor 3), PDCD1 (Programmed cell death protein 1), TOP1 (DNA topoisomerase 1), TUBA1A (Tubulin alpha-1A chain), TUBB2B (Tubulin beta-2B chain) and TUBB3 (Tubulin beta-3 chain).
How many genetic variants are linked to Cervical cancer?
10 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cervical cancer 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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