Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.C828S
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KCNH2

NM_000238.4:p.C828S

Associated Papers

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

Cysteine 723 in the C-linker segment confers oxidative inhibition of hERG1 potassium channels.

Kolbe K et al.

The Journal of Physiology, 2010

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