Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A486S
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ATP7B

NM_000053.4:p.A486S

Associated Papers

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

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

de Bie P et al.

Gastroenterology, 2007

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

Panagiotakaki E et al.

American Journal of Medical Genetics. Part A, 2004

Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

Loudianos G et al.

Genetic Testing, 2000

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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."