Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.Y49F
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RASA1

NM_002890.3:p.Y49F

Associated Papers

How can same-gene mutations promote both cancer and developmental disorders?

Nussinov R et al.

Science Advances, 2022

Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.

Tripathi S et al.

Computational and Structural Biotechnology Journal, 2022

34976316 (PubMed )
Supplement: mmc1.docx

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2019

Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Chang YS et al.

Cancer Medicine, 2019

RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.

Qutob N et al.

Scientific Reports, 2018

29330521 (PubMed )
Supplement: 41598_2017_18851_MOESM2_ESM.xlsx › TMA_samples_mutation_data

Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

Wey M et al.

Biochemistry, 2013

Activating K-Ras mutations outwith 'hotspot' codons in sporadic colorectal tumours - implications for personalised cancer medicine.

Smith G et al.

British Journal of Cancer, 2010

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

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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."