Varaico: Literature-Extracted Genetic Variants

Gene:XRCC4
Variant:p.R161*
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XRCC4

NM_003401.5:p.R161*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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: Table2.XLSX › Sheet1

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

Feline XRCC4 undergoes rapid Ku-dependent recruitment to DNA damage sites.

Koike M et al.

Febs Open Bio, 2022

Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.

Asa ADDC et al.

Journal of Radiation Research, 2021

Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Qin N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

Saito S et al.

Journal of Human Genetics, 2016

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE et al.

American Journal of Human Genetics, 2015

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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."