Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.P623A
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MSH6

NM_000179.3:p.P623A

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.

Yang RK et al.

Cancers, 2022

36230473 (PubMed )
Supplement: cancers-14-04550-s001.zip › cancers-1836268-supplementary › SupplementaryDataYanget2022 › Table_S1._Case_Level_Data.xlsx › Sheet1

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

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 › 6-TG_selection

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

Caja F et al.

International Journal of Molecular Sciences, 2020

32756484 (PubMed )
Supplement: ijms-21-05561-s001.zip › SNP_2.0_final.xls › MSH6

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s005.zip › Initial_Benchmark › CharGer_and_Panel_Benchmark.xlsx › SupplTable2

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Houlleberghs H et al.

Plos Genetics, 2017

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

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

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA et al.

Human Mutation, 2013

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

Ali H et al.

Human Mutation, 2012

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