Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.S41Y
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CRYAB

NM_001289808.2:p.S41Y

Associated Papers

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Intermediate filament diseases: desminopathy.

Goldfarb LG et al.

Advances in Experimental Medicine and Biology, 2008

Alpha B-crystallin mutation in dilated cardiomyopathy.

Inagaki N et al.

Biochemical and Biophysical Research Communications, 2006

[Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype.

van Veen T et al.

Neurology, 2003

Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.

Hahner A et al.

Human Mutation, 2000

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.

Benndorf R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."