Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.A53T
Back to variants list

MSH2

NM_000251.3:p.A53T

Associated Papers

Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome-associated MSH2-deficient endometrial cancer.

Bowen MB et al.

Jci Insight, 2025

39964762 (PubMed )
Supplement: jciinsight-10-185946-s270.xlsx › MSH2KOm00all_Paired_ANNOVARSNVs

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2

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 › ST1_Known_Germline_Variants

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 › MSH2

Clinical Impact of Detecting Low-Frequency Variants in Cell-Free DNA on Treatment of Castration-Resistant Prostate Cancer.

Mizuno K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34526361 (PubMed )
Supplement: 10780432ccr212328-sup-268178_2_supp_7341418_qy5jxd.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 › TableS5_AllVariants

Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.

Fojo T et al.

Bmc Medical Genomics, 2020

33148256 (PubMed )
Supplement: 12920_2020_809_MOESM2_ESM.xlsx › Supplemental_Table_1__part_2_
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."