Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.L26_S27insFs
Back to variants list

ATP6V0A2

NM_012463.4:p.L26_S27insFs

Associated Papers

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S et al.

American Journal of Medical Genetics. Part A, 2021

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V et al.

Human Molecular Genetics, 2009

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."