Varaico: Literature-Extracted Genetic Variants

Gene:RHOA
Variant:p.P71S
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RHOA

NM_001664.4:p.P71S

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

RHOA-associated disorder can be non-mosaic.

Nakato D et al.

European Journal of Medical Genetics, 2025

From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.

Durmusalioglu EA et al.

American Journal of Medical Genetics. Part A, 2025

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.

Cai ZR et al.

Pediatric Dermatology, 2022

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Bruel AL et al.

Clinical Genetics, 2020

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres P et al.

Nature Genetics, 2019

Gastric poorly cohesive carcinoma: a correlative study of mutational signatures and prognostic significance based on histopathological subtypes.

Kwon CH et al.

Histopathology, 2018

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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."