Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.S1653R
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AKAP6

NM_004274.5:p.S1653R

Associated Papers

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf

Form follows function: polymorphisms in mAKAP alter cardiac cAMP/PKA signaling.

Paruchuri S et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2018

Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling.

Suryavanshi SV et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2018

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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."