Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.L749Q
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MLH1

NM_000249.4:p.L749Q

Associated Papers

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.

Kaushik V et al.

Advanced Genetics (hoboken, N.j.), 2021

36618447 (PubMed )
Supplement: GGN2-2-e10039-s001.zip › Google_Scholar_and_Mastermind_Search_Data_-_for_Submission.xlsx › Google_Scholar___Mastermind

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Heinen CD et al.

Hereditary Cancer in Clinical Practice, 2012

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

Ali H et al.

Human Mutation, 2012

A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

Perera S et al.

The Journal of Molecular Diagnostics : Jmd, 2010

The C-terminal domain of the MutL homolog from Neisseria gonorrhoeae forms an inverted homodimer.

Namadurai S et al.

Plos One, 2010

The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein family.

Kosinski J et al.

Journal of Molecular Biology, 2008

The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.

Perera 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."