Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGEF10L

Variant:p.K439_R440Splc

Back to variants list

ARHGEF10L

NM_018125.4:p.K439_R440Splc

hg38:chr1:17624531 G>A

Associated Papers

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

Bögershausen N et al.

Jci Insight, 2025

40131364 (PubMed )

Supplement: jciinsight-10-173484-s116.xlsx › Tabelle1

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."