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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAB2

Variant:p.S390delFs

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TAB2

NM_001292034.3:p.S390delFs

hg38:chr6:149379080 AT>A

Associated Papers

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.

Chen J et al.

Bmc Cardiovascular Disorders, 2020

31959127 (PubMed )

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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."