Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L265P
Back to variants list

SDS

NM_006843.3:p.L265P

Associated Papers

Pathological mutations differentially affect the self-assembly and polymerisation of the innate immune system signalling adaptor molecule MyD88.

O'Carroll A et al.

Bmc Biology, 2018

Functional protein microarrays for parallel characterisation of p53 mutants.

Boutell JM et al.

Proteomics, 2004

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ et al.

The Journal of Biological Chemistry, 2002

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Hinson DD et al.

American Journal of Human Genetics, 1999

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."