MSH6 c.1816A>G ;(p.K606E)

Variant ID: 2-48026938-A-G

NM_000179.2(MSH6):c.1816A>G;(p.K606E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MSH6: 1816A>G; K606E
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Nuclear and mitochondrial genome sequencing of North-African Leishmania infantum isolates from cured and relapsed visceral leishmaniasis patients reveals variations correlating with geography and phenotype.

Microbial Genomics
Bussotti, Giovanni G; Benkahla, Alia A; Jeddi, Fakhri F; Souiaï, Oussama O; Aoun, Karim K; Späth, Gerald F GF; Bouratbine, Aïda A
Publication Date: 2020-10

Variant appearance in text: MSH6: K606E
PubMed Link: 32975503
Variant Present in the following documents:
  • mgen-6-444-s002.xlsx, sheet 2
View BVdb publication page