Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.S72G
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KCNJ1

NM_153766.3:p.S72G

Associated Papers

Genome mining yields putative disease-associated ROMK variants with distinct defects.

Nguyen NH et al.

Plos Genetics, 2023

37956218 (PubMed )
Supplement: pgen.1011051.s009.docx

The cellular pathways that maintain the quality control and transport of diverse potassium channels.

Nguyen NH et al.

Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 2023

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
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