HP c.742G>A ;(p.G248R)

Variant ID: 16-72094310-G-A

NM_005143.3(HP):c.742G>A;(p.G248R)

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: HP: 742G>A; G248R
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6.

Plos Computational Biology
Ismail, Alexandre A; Leroux, Vincent V; Smadja, Myriam M; Gonzalez, Lucie L; Lombard, Murielle M; Pierrel, Fabien F; Mellot-Draznieks, Caroline C; Fontecave, Marc M
Publication Date: 2016-01

Variant appearance in text: HP: G248R
PubMed Link: 26808124
Variant Present in the following documents:
  • Main text
  • pcbi.1004690.pdf
View BVdb publication page