Varaico: Literature-Extracted Genetic Variants

Gene:COPB2
Variant:p.R254C
Back to variants list

COPB2

NM_004766.3:p.R254C

Associated Papers

Vesicular trafficking and cell-cell communication in neurodevelopment and neurodegeneration.

Amin S et al.

Frontiers in Cell and Developmental Biology, 2025

Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation.

Shiri A et al.

European Journal of Medical Genetics, 2023

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.

Zaqout S et al.

Frontiers in Cell and Developmental Biology, 2021

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

DiStasio A et al.

Human Molecular Genetics, 2017

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1
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."