Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.S548L
Back to variants list

PRKAG2

NM_016203.4:p.S548L

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."