RBFOX2 RNA binding fox-1 homolog 2

Gene info

Disease info

Animal model

Variant info

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

1. Variant types are single nucleotide variant or Indel
2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for RBFOX2.

Selected References

1. Verma, S. K., Deshmukh, V., Nutter, C. A., Jaworski, E., Jin, W., Wadhwa, L., Abata, J., Ricci, M., Lincoln, J., Martin, J. F., Yeo, G. W., & Kuyumcu-Martinez, M. N. (2016). Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts. Scientific Reports, 6(1). https://doi.org/10.1038/srep30896 DOI:10.1038/srep30896 PMID:27485310
2. Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Wakimoto, H., Gorham, J., Jin, S. C., Deanfield, J., Giardini, A., Porter, G. A., Kim, R., Bilguvar, K., López-Giráldez, F., Tikhonova, I., Mane, S., … Chung, W. K. (2015). De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science, 350(6265), 1262–1266. https://doi.org/10.1126/science.aac9396 DOI:10.1126/science.aac9396 PMID:26785492