# Editorial: Computational and experimental protein variant interpretation in the era of precision medicine

**Authors:** Tiziana Sanavia, Paola Turina, Silvia Morante, Valerio Consalvi, Arthur M. Lesk, Constantina Bakolitsa, Daniele Dell'Orco

PMC · DOI: 10.3389/fmolb.2024.1363813 · Frontiers in Molecular Biosciences · 2024-01-15

## Full-text entities

- **Genes:** RYR1 (ryanodine receptor 1) [NCBI Gene 6261] {aka CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS}, TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) [NCBI Gene 10312] {aka ATP6N1C, ATP6V0A3, Atp6i, OC-116kDa, OC116, OPTB1}, FXN (frataxin) [NCBI Gene 2395] {aka CyaY, FA, FARR, FRDA, X25}, CALM1 (calmodulin 1) [NCBI Gene 801] {aka CALML2, CAM2, CAM3, CAMB, CAMC, CAMI}, RYR2 (ryanodine receptor 2) [NCBI Gene 6262] {aka ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP}, NQO1 (NAD(P)H quinone dehydrogenase 1) [NCBI Gene 1728] {aka DHQU, DIA4, DTD, NMOR1, NMORI, QR1}, EBNA1 [NCBI Gene 17494214]
- **Diseases:** neurological disorders (MESH:D009461), congenital arrhythmia (MESH:D001145), EBV infections (MESH:D020031), osteopetrosis (MESH:D010022), rare disorders (MESH:D035583), congenital neutropenia (MESH:C537592), cancer (MESH:D009369)
- **Chemicals:** Co2+ (MESH:D002245)
- **Species:** Homo sapiens (human, species) [taxon 9606], human gammaherpesvirus 4 (Epstein Barr virus, no rank) [taxon 10376]
- **Mutations:** N97I, R521A, Q135P, R522A

## Full text

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## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC10823009/full.md

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Source: https://tomesphere.com/paper/PMC10823009