Varaico: Literature-Extracted Genetic Variants

Gene:KANK2
Variant:p.S181G
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KANK2

NM_001136191.3:p.S181G

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A.

Xu Y et al.

The Journal of Biological Chemistry, 2021

Structural insights into ankyrin repeat-mediated recognition of the kinesin motor protein KIF21A by KANK1, a scaffold protein in focal adhesion.

Pan W et al.

The Journal of Biological Chemistry, 2018

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Gee HY et al.

The Journal of Clinical Investigation, 2015

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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."