Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S621_M622delFs
Back to variants list

PMS2

NM_000535.7:p.S621_M622delFs

Associated Papers

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_2.

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

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 › PMS2

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2

Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Wilson GD et al.

Oncotarget, 2018

29899834 (PubMed )
Supplement: oncotarget-09-25957-s003.xlsx › ST2_GeneVar_Mets

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Wernstedt A et al.

Genes, Chromosomes & Cancer, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."