Varaico: Literature-Extracted Genetic Variants

Gene:TM6SF2
Variant:p.N139K
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TM6SF2

NM_001001524.3:p.N139K

Associated Papers

Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach.

Huang HYR et al.

Jhep Reports : Innovation in Hepatology, 2025

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

Lam L et al.

Heartrhythm Case Reports, 2015

28491533 (PubMed )
Supplement: mmc1.docx
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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."