Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.M143V
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PAK1

NM_002576.5:p.M143V

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

Scorrano G et al.

Pediatric Neurology, 2023

Autism risk in offspring can be assessed through quantification of male sperm mosaicism.

Breuss MW et al.

Nature Medicine, 2020

31873310 (PubMed )
Supplement: NIHMS1544276-supplement-2.xlsx › Supplementary_Data_1
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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."