Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM53

Variant:p.S217L

Back to variants list

TMEM53

NM_024587.4:p.S217L

hg38:chr1:44654743 G>A

Associated Papers

TMEM53 as an outer nuclear membrane regulator of cranial and tubular bone formation in craniotubular dysplasia.

Ren K et al.

Journal of Human Genetics, 2025

41408477 (PubMed )

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Whyte MP et al.

Bone, 2024

39084544 (PubMed )

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."