MSH6 c.3762A>C ;(p.E1254D)

Variant ID: 2-48033458-A-C

NM_000179.2(MSH6):c.3762A>C;(p.E1254D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MSH6: 3762A>C; E1254D
PubMed Link: 36550560
Variant Present in the following documents:
  • 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance.

Nature Communications
Zong, Xuan X; Zhang, Ying Y; Peng, Xinxin X; Cao, Dongyan D; Yu, Mei M; Wang, Jinhui J; Li, Hongyue H; Guo, Xuejiao X; Liang, Han H; Yang, Jiaxin J
Publication Date: 2021-06-11

Variant appearance in text: MSH6: E1254D
PubMed Link: 34117242
Variant Present in the following documents:
  • 41467_2021_23681_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic mutations in lung enteric adenocarcinoma identified using next-generation sequencing.

International Journal Of Clinical And Experimental Pathology
Lin, Li L; Zhuang, Wu W; Wang, Wenxian W; Xu, Chunwei C; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Shao, Yun Y; Tai, Yanhong Y; Chen, Yanping Y; Wu, Meijuan M; Wei, Jianguo J; Chen, Gang G
Publication Date: 2017

Variant appearance in text: MSH6: E1254D
PubMed Link: 31966835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research
Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY
Publication Date: 2019

Variant appearance in text: MSH6: E1254D
PubMed Link: 31118792
Variant Present in the following documents:
  • cmar-11-3721.pdf
View BVdb publication page