Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AOPEP

Variant:p.K54E

Back to variants list

AOPEP

NM_001193329.3:p.K54E

hg38:chr9:94759943 A>G

Associated Papers

A neurodevelopmental disorder mutation locks G proteins in the transitory pre-activated state.

Knight KM et al.

Nature Communications, 2024

39103320 (PubMed )

Supplement: 41467_2024_50964_MOESM2_ESM.pdf

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."