Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.L53*
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SOS1

NM_005633.4:p.L53*

Associated Papers

Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.

Gao Q et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

SOS GEFs in health and disease.

Baltanás FC et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2020

SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.

Cowan JR et al.

Circulation. Genomic and Precision Medicine, 2020

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

Tajan M et al.

Endocrine Reviews, 2018

RAS Proteins and Their Regulators in Human Disease.

Simanshu DK et al.

Cell, 2017

A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways.

Tumurkhuu M et al.

Journal of Receptor and Signal Transduction Research, 2013

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

Tumurkhuu M et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2010

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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."