Varaico: Literature-Extracted Genetic Variants

Gene:HRAS
Variant:p.I36_E37ins0
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HRAS

NM_005343.4:p.I36_E37ins0

Associated Papers

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Guerrera S et al.

Frontiers in Genetics, 2026

Behavioral phenotype in Costello syndrome with atypical mutation: a case report.

Alfieri P et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2015

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

Gremer L et al.

Human Molecular Genetics, 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."