NF1 c.1322A>G ;(p.N441S)

Variant ID: 17-29533319-A-G

NM_001042492.2(NF1):c.1322A>G;(p.N441S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Journal Of Immunology Research
Tan, Wei W; Ji, Yuelun Y; Qian, Yuepeng Y; Lin, Yongchang Y; Ye, Ruolian R; Wu, Weiping W; Li, Yibin Y; Sun, Yongjian Y; Pan, Jianyin J
Publication Date: 2022

Variant appearance in text: NF1: 1322A>G
PubMed Link: 35647203
Variant Present in the following documents:
  • JIR2022-5068523.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs370020114
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 4
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs370020114
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 4
View BVdb publication page