ATP6V1A
History
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in FL not firmly establishedhubschmannMutationalMechanismsShaping2021b? |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| FL | GAMBL genomes | 1.15 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.321 | 0 |
| DLBCL | No | No | 7.648 | 0 |
| FL | No | No | 8.783 | 0 |
ATP6V1A Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 113528218 | G>A | D600N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
ATP6V1A Expression
All Mutations
SP59304 SP59444 SP193057 SP194216
References
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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