Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF2
Variant:p.E1357K
Back to variants list

RAPGEF2

NM_001394067.2:p.E1357K

Associated Papers

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.

Bereshneh AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

The genetic evolution of acral melanoma.

Wang M et al.

Nature Communications, 2024

39034322 (PubMed )
Supplement: 41467_2024_50233_MOESM5_ESM.xlsx › Supplementary_Data_2

Variant functional assessment in Drosophila by overexpression: what can we learn?

Her Y et al.

Genome, 2024

The genetic evolution of acral melanoma.

Wang M et al.

Biorxiv : the Preprint Server for Biology, 2023

37904969 (PubMed )
Supplement: media-2.xlsx › Sheet1

A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution.

Heo K et al.

Experimental Neurobiology, 2018

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."