Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.E318K
Back to variants list

SDS

NM_006843.3:p.E318K

Associated Papers

Novel mechanisms of MITF regulation identified in a mouse suppressor screen.

Vu HN et al.

Embo Reports, 2024

39169200 (PubMed )
Supplement: 44319_2024_225_MOESM1_ESM.pdf

DNA damage remodels the MITF interactome to increase melanoma genomic instability.

Binet R et al.

Genes & Development, 2024

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.

Montioli R et al.

Frontiers in Molecular Biosciences, 2021

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C et al.

Human Molecular Genetics, 2013

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M et al.

Human Mutation, 2013

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."