Varaico: Literature-Extracted Genetic Variants

Gene:MAD1L1
Variant:p.R558H
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MAD1L1

NM_001013836.2:p.R558H

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Proteogenomic analysis of air-pollution-associated lung cancer reveals prevention and therapeutic opportunities.

Zhang H et al.

Elife, 2024

MAD1L1 Arg558His and MAD2L1 Leu84Met interaction with smoking increase the risk of colorectal cancer.

Zhong R et al.

Scientific Reports, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06O-01A.domain

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3

Meta-analysis identifies four new loci associated with testicular germ cell tumor.

Chung CC et al.

Nature Genetics, 2013

The MAD1 1673 G → A polymorphism alters the function of the mitotic spindle assembly checkpoint and is associated with a worse response to induction chemotherapy and sensitivity to treatment in patients with advanced epithelial ovarian cancer.

Santibáñez M et al.

Pharmacogenetics and Genomics, 2013

Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer.

Guo Y et al.

Journal of Medical Genetics, 2010

Characterization of regions in hsMAD1 needed for binding hsMAD2. A polymorphic change in an hsMAD1 leucine zipper affects MAD1-MAD2 interaction and spindle checkpoint function.

Iwanaga Y et al.

The Journal of Biological Chemistry, 2002

Mutations in the mitotic check point gene, MAD1L1, in human cancers.

Tsukasaki K et al.

Oncogene, 2001

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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."