Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.K143I
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RNASEH2C

NM_032193.4:p.K143I

Associated Papers

Ribonucleases in Mendelian disease: Characterization and insight from model organisms.

Dutta A et al.

Genes & Diseases, 2025

41630789 (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: Table1.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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.

Das J et al.

Human Mutation, 2014

The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.

Reijns MA et al.

The Journal of Biological Chemistry, 2011

Ribonuclease H: the enzymes in eukaryotes.

Cerritelli SM et al.

The Febs Journal, 2009

Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.

Chon H et al.

Nucleic Acids Research, 2009

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow YJ et al.

Nature Genetics, 2006

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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."