Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.A636P
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PMS2

NM_000535.7:p.A636P

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › MSH2

Recall of Genomic Testing Results Among Patients with Cancer.

Wing SE et al.

The Oncologist, 2021

34355454 (PubMed )
Supplement: ONCO-26-e2302-s003.pdf

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X et al.

American Journal of Human Genetics, 2021

33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet

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 › MSH2

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

Levi Z et al.

Clinical Genetics, 2015

[Management of hereditary non-polyposis syndrome (Lynch syndrome)].

Kariv R et al.

Harefuah, 2011

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

Kansikas M et al.

Human Mutation, 2011

The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients.

Barak F et al.

Gynecologic Oncology, 2010

Mechanisms of pathogenicity in human MSH2 missense mutants.

Ollila S et al.

Human Mutation, 2008

Genetic factors and colorectal cancer in Ashkenazi Jews.

Locker GY et al.

Familial Cancer, 2004

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A et al.

American Journal of Human Genetics, 2003

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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."