Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.G54E
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MLH1

NM_000249.4:p.G54E

Associated Papers

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Abildgaard AB et al.

Elife, 2019

Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

Hinrichsen I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 2007

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