HVCN1
Overview
HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma. HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 2 | relevance in BL not firmly established |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 0.92 |
| BL | Thomas cohort | 0.80 |
| BL | Panea cohort | 2.00 |
| DLBCL | GAMBL genomes | 3.06 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 2.30 |
| DLBCL | Chapuy cohort | 3.42 |
| FL | GAMBL genomes | 6.47 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 2.588 | 0.000 |
| DLBCL | No | Yes | 7.172 | 47.127 |
| FL | No | Yes | 16.103 | 259.368 |
## HVCN1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 111099150 | T>G | Y42S |
| chr12 | 111099150 | T>C | Y42C |
| chr12 | 111099142 | A>T | W45R |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
References
- Krysiak, K., Gomez, F., White, B., Matlock, M., Miller, C., Trani, L., Fronick, C., Fulton, R., Kreisel, F., Cashen, A., Carson, K., Berrien-Elliott, M., Bartlett, N., Griffith, M., Griffith, O., & Fehniger, T. (2017). Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma.. Blood, 129 4, 473-483 . https://doi.org/10.1182/blood-2016-07-729954.
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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