Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HARS1

Variant:p.K376R

Back to variants list

HARS1

NM_002109.6:p.K376R

hg38:chr5:140676721 T>C

Associated Papers

Towards a Cure for HARS Disease.

Wilhelm SDP et al.

Genes, 2023

36833180 (PubMed )

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Vester A et al.

Human Mutation, 2013

22930593 (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."