MSH6 c.164C>T ;(p.P55L)

Variant ID: 2-48010536-C-T

NM_000179.2(MSH6):c.164C>T;(p.P55L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: MSH6: 164C>T; P55L
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 164C>T; Pro55Leu
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



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

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH6: 164C>T; Pro55Leu
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report.

Medicine
Vanni, Irene I; Coco, Simona S; Bonfiglio, Silvia S; Cittaro, Davide D; Genova, Carlo C; Biello, Federica F; Mora, Marco M; Rossella, Valeria V; Dal Bello, Maria Giovanna MG; Truini, Anna A; Banelli, Barbara B; Lazarevic, Dejan D; Alama, Angela A; Rijavec, Erika E; Barletta, Giulia G; Grossi, Francesco F
Publication Date: 2016-11

Variant appearance in text: MSH6: 164C>T; Pro55Leu
PubMed Link: 27902597
Variant Present in the following documents:
  • md-95-e5447.pdf
View BVdb publication page