Location [1]
Protein [2]
Synonyms [1]
USH2, RP39, US2, dJ1111A8.1

USH2A is altered in 2.31% of all cancers with breast invasive ductal carcinoma, mixed lobular and ductal breast carcinoma, breast invasive lobular carcinoma, breast neoplasm, and mucinous breast carcinoma having the greatest prevalence of alterations [3].

USH2A GENIE Cases - Top Diseases

The most common alterations in USH2A are USH2A Amplification (21.45%), USH2A Mutation (6.03%), USH2A P196S (0.17%), USH2A A3975T (0.08%), and USH2A P1076S (0.08%) [3].

USH2A GENIE Cases - Top Alterations


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.