Varaico: Literature-Extracted Genetic Variants

Gene:CCL21
Variant:p.E126K
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CCL21

NM_002989.4:p.E126K

Associated Papers

Encoding and decoding selectivity and promiscuity in the human chemokine-GPCR interaction network.

Kleist AB et al.

Cell, 2025

40273912 (PubMed )
Supplement: NIHMS2076408-supplement-MMC4.xlsx › Supplementary_Table_4

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.

Fernández SG et al.

Molecular Neurodegeneration, 2025

Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Petit D et al.

Molecular Psychiatry, 2022

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Renard M et al.

European Journal of Human Genetics : Ejhg, 2010

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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."