Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ9
Variant:p.V53E
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KCNJ9

NM_004983.3:p.V53E

Associated Papers

A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.

Chen IS et al.

The Journal of Physiology, 2022

EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling.

Liu ZK et al.

Molecular Cancer, 2021

34044846 (PubMed )
Supplement: 12943_2021_1377_MOESM2_ESM.zip › Additional_file_2-Table_S3.xlsx › non-silent_mutations_and_indel

Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K+ Channel) Channel Function.

Kuß J et al.

Circulation. Genomic and Precision Medicine, 2019

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Kuppusamy M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."