Varaico: Literature-Extracted Genetic Variants

Gene:SRPK1
Variant:p.R649Q
Back to variants list

SRPK1

NM_003137.5:p.R649Q

Associated Papers

NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Wang B et al.

Scientific Reports, 2018

29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
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."