Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.W513R
Back to variants list

CC2D2A

NM_001378615.1:p.W513R

Associated Papers

A Survey of Predicted Protein-Protein Interactions Involving Disordered Regions in Humans.

Pei J et al.

Journal of Molecular Biology, 2026

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Barroso-Gil M et al.

Molecular Genetics & Genomic Medicine, 2021

33486889 (PubMed )
Supplement: MGG3-9-e1603-s001.docx

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.

Méjécase C et al.

Clinical Genetics, 2019

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."