Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P616A
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SCNN1B

NM_000336.3:p.P616A

Associated Papers

A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel.

Gao L et al.

The Journal of Pediatrics, 2013

The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool.

Lu C et al.

Traffic (copenhagen, Denmark), 2007

Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome.

Schild L et al.

The Embo Journal, 1996

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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."