Varaico: Literature-Extracted Genetic Variants

Gene:KCND2
Variant:p.N544S
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KCND2

NM_012281.3:p.N544S

Associated Papers

The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder.

Liu Z et al.

Frontiers in Psychiatry, 2022

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.

Guglielmi L et al.

Frontiers in Cellular Neuroscience, 2015

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H et al.

Human Molecular Genetics, 2014

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a549_f40r3
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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."