Varaico: Literature-Extracted Genetic Variants

Gene:BUD13
Variant:p.R242I
Back to variants list

BUD13

NM_032725.4:p.R242I

Associated Papers

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Andres EM et al.

Brain Sciences, 2021

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

Garcia-Etxebarria K et al.

Plos One, 2015

26379185 (PubMed )
Supplement: pone.0135983.s003.xlsx › Severe_flu_vs._general_pop.

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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."