Varaico: Literature-Extracted Genetic Variants

Gene:RPAP3
Variant:p.L53I
Back to variants list

RPAP3

NM_024604.3:p.L53I

Associated Papers

The interaction between RPAP3 and TRBP reveals a possible involvement of the HSP90/R2TP chaperone complex in the regulation of miRNA activity.

Abel Y et al.

Nucleic Acids Research, 2022

35150569 (PubMed )
Supplement: gkac086_supplemental_file.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65
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."