Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.V56I
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KCNJ2

NM_000891.3:p.V56I

Associated Papers

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

Cholesterol sensitivity of KIR2.1 depends on functional inter-links between the N and C termini.

Rosenhouse-Dantsker A et al.

Channels (austin, Tex.), 0

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