Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTK7

Variant:p.H274R

Back to variants list

PTK7

NM_002821.5:p.H274R

hg38:chr6:43132024 A>G

Associated Papers

ELOVL5 mutations cause spinocerebellar ataxia 38.

Di Gregorio E et al.

American Journal of Human Genetics, 2014

25065913 (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."