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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BEST1

Variant:p.K149R

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BEST1

NM_004183.4:p.K149R

hg38:chr11:61955916 A>G

Associated Papers

Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity.

Zhou Z et al.

Cellular Signalling, 2026

41456629 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."