Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.R242W
Back to variants list

WIPI2

NM_015610.4:p.R242W

Associated Papers

WIPI proteins: Biological functions and related syndromes.

Almannai M et al.

Frontiers in Molecular Neuroscience, 2022

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

Maroofian R et al.

Brain Communications, 2021

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_3_-_Progress
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."