Varaico: Literature-Extracted Genetic Variants

Gene:TMEM231
Variant:p.Q182*
Back to variants list

TMEM231

NM_001077418.3:p.Q182*

Associated Papers

Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome.

Zhang Q et al.

Frontiers in Genetics, 2023

37736303 (PubMed )
Supplement: Table1.xlsx › Sheet1

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Roberson EC et al.

The Journal of Cell Biology, 2015

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."