Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.I248T
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CYP11B2

NM_000498.3:p.I248T

Associated Papers

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.

Bourmoum M et al.

Plos One, 2024

38324534 (PubMed )
Supplement: pone.0295030.s003.xlsx › 3samples.exome.dp5.snvindel

Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene.

Jia M et al.

Plos One, 2014

Amino acid residue 147 of human aldosterone synthase and 11beta-hydroxylase plays a key role in 11beta-hydroxylation.

Fisher A et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Structure-function relationships of aldosterone synthase and 11 beta-hydroxylase enzymes: implications for human hypertension.

Fisher A et al.

Clinical and Experimental Pharmacology & Physiology. Supplement, 1998

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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."