Homo sapiens EYA transcriptional coactivator and phosphatase 1 (EYA1), - Nucleotide

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Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms. [BMC Med Genomics. 2024]
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.
Zhang H, Gao J, Wang H, Liu M, Lu S, Xu H, Tang W, Zheng G. BMC Med Genomics. 2024 Apr 16; 17(1):89. Epub 2024 Apr 16.
The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation. [Nat Commun. 2024]
The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation.
Nelson CB, Rogers S, Roychoudhury K, Tan YS, Atkinson CJ, Sobinoff AP, Tomlinson CG, Hsu A, Lu R, Dray E, et al. Nat Commun. 2024 Feb 15; 15(1):1385. Epub 2024 Feb 15.
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. [Mol Genet Genomic Med. 2022]
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Yalcouyé A, Traoré O, Diarra S, Schrauwen I, Esoh K, Kadlubowska MK, Bharadwaj T, Adadey SM, Kéita M, Guinto CO, et al. Mol Genet Genomic Med. 2022 Jul; 10(7):e1995. Epub 2022 Jun 14.

RefSeq alternative splicing
See 43 reference mRNA sequence splice variants for the EYA1 gene.
RefSeq protein product
See the reference protein sequence for eyes absent homolog 1 isoform 1 (NP_001357264.1).

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Protein sequence from Nucleotide coding region
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Nucleotide