Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.S35N
Back to variants list

RIT1

NM_006912.6:p.S35N

Associated Papers

RAS-dependent RAF-MAPK hyperactivation by pathogenic RIT1 is a therapeutic target in Noonan syndrome-associated cardiac hypertrophy.

Cuevas-Navarro A et al.

Science Advances, 2023

Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation.

Chen S et al.

Cancer Discovery, 2022

The RAS GTPase RIT1 compromises mitotic fidelity through spindle assembly checkpoint suppression.

Cuevas-Navarro A et al.

Current Biology : Cb, 2021

The molecular functions of RIT1 and its contribution to human disease.

Van R et al.

The Biochemical Journal, 2020

Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

Fang Z et al.

The Journal of Biological Chemistry, 2016

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y et al.

American Journal of Human Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."