Varaico: Literature-Extracted Genetic Variants

Gene:SETDB1
Variant:p.P254H
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SETDB1

NM_001366418.1:p.P254H

Associated Papers

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

37762649 (PubMed )
Supplement: ijms-24-14348-s001.zip › Supplemental_table_S1_VUS_-_ALL_VUS.xlsx › MATADOR_compare_byvariant_p0.05

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
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