Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.P623L
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MSH6

NM_000179.3:p.P623L

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › Combined_minus_RNA

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

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Terui H et al.

Journal of Biomedical Science, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.

Belvederesi L et al.

Familial Cancer, 2012

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Hampel H et al.

Cancer Research, 2006

MSH6 missense mutations are often associated with no or low cancer susceptibility.

Kariola R et al.

British Journal of Cancer, 2004

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