Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E594K
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MLH1

NM_000249.4:p.E594K

Associated Papers

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data

Potential genetic biomarker of Saudi Arabian patients with colorectal cancer.

Younis NS et al.

European Review for Medical and Pharmacological Sciences, 2022

NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Chang PY et al.

Oncotarget, 2016

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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."