Varaico: Literature-Extracted Genetic Variants

Gene:ATP8A2
Variant:p.L624F
Back to variants list

ATP8A2

NM_016529.6:p.L624F

Associated Papers

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Exome_SNVs

Dual Regulatory Mechanisms of Expression and Mutation Involving Metabolism-Related Genes FDFT1 and UQCR5 during CLM.

Ma YS et al.

Molecular Therapy Oncolytics, 2019

31236441 (PubMed )
Supplement: mmc1.pdf

Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.

Martin LA et al.

Nature Communications, 2017

29192207 (PubMed )
Supplement: 41467_2017_1864_MOESM3_ESM.xlsx › MCF7-LTEDY537C

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s004.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."