Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S2
Variant:p.Y51*
Back to variants list

BLOC1S2

NM_173809.5:p.Y51*

Associated Papers

Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Ishikawa T et al.

Iscience, 2023

37207275 (PubMed )
Supplement: mmc10.xlsx › Sheet1

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584

MBASED: allele-specific expression detection in cancer tissues and cell lines.

Mayba O et al.

Genome Biology, 2014

25315065 (PubMed )
Supplement: 13059_2014_405_MOESM3_ESM.xlsx › FunctionalSomaticMutations
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."