Varaico: Literature-Extracted Genetic Variants

Gene:AKAP5
Variant:p.P100L
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AKAP5

NM_004857.3:p.P100L

Associated Papers

Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?

Maden Bedel F et al.

Psychiatric Genetics, 2024

Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.

Suryavanshi SV et al.

Journal of Cardiovascular Development and Disease, 2018

Effects of AKAP5 Pro100Leu genotype on working memory for emotional stimuli.

Richter S et al.

Plos One, 2013

A Potential Role for a Genetic Variation of AKAP5 in Human Aggression and Anger Control.

Richter S et al.

Frontiers in Human Neuroscience, 2011

Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.

Frank B et al.

Journal of the National Cancer Institute, 2008

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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."