Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.G396Splc
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MUTYH

NM_001128425.2:p.G396Splc

Associated Papers

Saturation mapping of MUTYH variant effects using DNA repair reporters.

Hemker SL et al.

Biorxiv : the Preprint Server for Biology, 2025

40093110 (PubMed )
Supplement: media-4.xlsx › Cohort_Analysis

Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans.

Park JE et al.

Annals of Laboratory Medicine, 2025

39497414 (PubMed )
Supplement: alm-45-1-77-supple.pdf

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Win AK et al.

Familial Cancer, 2015

Leiden Open Variation Database of the MUTYH gene.

Out AA et al.

Human Mutation, 2010

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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."