Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.R61H
Back to variants list

SPRED1

NM_152594.3:p.R61H

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SPRED1

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.

Lodi M et al.

Diagnostics (basel, Switzerland), 2020

Role of SPRED1 in keratinocyte proliferation in psoriasis.

Li X et al.

The Journal of Dermatology, 2020

Multi-omics study in monozygotic twins confirm the contribution of de novo mutation to psoriasis.

Li J et al.

Journal of Autoimmunity, 2020

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
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."