Varaico: Literature-Extracted Genetic Variants

Gene:SETDB1
Variant:p.S529L
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SETDB1

NM_001366418.1:p.S529L

Associated Papers

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation.

Južnić L et al.

Gut, 2021

32503845 (PubMed )
Supplement: gutjnl-2020-321339supp003.xlsx › Sheet_1_-_gnomAD_v2.1.1_ENSG000

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
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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."