Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.Q29*
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MUTYH

NM_001128425.2:p.Q29*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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-2.xlsx › v5k3_allsnvs_with_splice_pop_cl

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

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.

Riechelmann RP et al.

Endocrine-related Cancer, 2023

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10
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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."