Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.L173P
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MSH6

NM_000179.3:p.L173P

Associated Papers

Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.

Singh S et al.

Biotechnology and Applied Biochemistry, 2022

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.MSH6

Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.

Kim SY et al.

Oncotarget, 2017

29190888 (PubMed )
Supplement: oncotarget-08-91950-s004.xlsx › Sheet1

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

Mechanisms of pathogenicity in human MSH2 missense mutants.

Ollila S et al.

Human Mutation, 2008

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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."