Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.S164P
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KCNJ1

NM_153766.3:p.S164P

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

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_Gnomad_0325322.xlsx › Sheet1
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