Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.E1254D
Back to variants list

MSH6

NM_000179.3:p.E1254D

Associated Papers

Association of IgG4-related disease with human inborn errors of immunity.

Batani V et al.

Rheumatology (oxford, England), 2025

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

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 › MSH6

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.

Jiang TJ et al.

Cancer Communications (london, England), 2020

32914570 (PubMed )
Supplement: CAC2-40-620-s003.xlsx › Sheet1

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing.

Garg S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Young EL et al.

Bmc Cancer, 2018

29945567 (PubMed )
Supplement: 12885_2018_4573_MOESM1_ESM.xlsx › Supplemental_Table_2

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

Ali H et al.

Human Mutation, 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."