Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P1562L
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AHNAK2

NM_138420.4:p.P1562L

Associated Papers

Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by SPP1+ macrophages.

Jin JY et al.

Frontiers in Cell and Developmental Biology, 2025

40900730 (PubMed )
Supplement: Table1.xlsx › Table_S2

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS13

Proteogenomic systems analysis identifies targeted therapy resistance mechanisms in EGFR-mutated lung cancer.

Treue D et al.

International Journal of Cancer, 2019

Integrating Next-Generation Genomic Sequencing and Mass Spectrometry To Estimate Allele-Specific Protein Abundance in Human Brain.

Wingo TS et al.

Journal of Proteome Research, 2017

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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."