Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D1

Variant:p.E357Q

Back to variants list

TBC1D1

NM_001396959.1:p.E357Q

hg38:chr4:38020687 G>C

Associated Papers

Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Chu C et al.

Human Genomics, 2022

35361250 (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."