Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.K285T
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CLCN7

NM_001287.6:p.K285T

Associated Papers

Mechanism of phosphoinositide regulation of lysosomal pH via inhibition of CLC-7.

Hilton JK et al.

Biorxiv : the Preprint Server for Biology, 2025

Sorting nexin 10 regulates lysosomal ionic homeostasis via ClC-7 by controlling PI(3,5)P2.

Wu JZ et al.

The Journal of Cell Biology, 2025

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.

Polovitskaya MM et al.

The Journal of Biological Chemistry, 2024

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