Varaico: Literature-Extracted Genetic Variants

Gene:MAPK8IP3
Variant:p.Y94C
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MAPK8IP3

NM_001318852.2:p.Y94C

Associated Papers

A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles.

Zhang W et al.

Jci Insight, 2025

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J et al.

Biomedicines, 2023

38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Iwasawa S et al.

Annals of Neurology, 2019

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer K et al.

American Journal of Human Genetics, 2019

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › missense
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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."