APC c.6662T>C ;(p.M2221T)

Variant ID: 5-112177953-T-C

NM_000038.5(APC):c.6662T>C;(p.M2221T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: APC: M2221T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Zhang, Zhi Z; Duan, Fu-Xiao FX; Gu, Guo-Li GL; Yu, Peng-Fei PF
Publication Date: 2020-04-28

Variant appearance in text: APC: 6662T>C; Met2221Thr
PubMed Link: 32390703
Variant Present in the following documents:
  • Main text
  • WJG-26-1926.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: APC: 6662T>C; M2221T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature.

World Journal Of Clinical Cases
Duan, Fu-Xiao FX; Gu, Guo-Li GL; Yang, Hai-Rui HR; Yu, Peng-Fei PF; Zhang, Zhi Z
Publication Date: 2018-08-16

Variant appearance in text: APC: 6662T>C; Met2221Thr
PubMed Link: 30148152
Variant Present in the following documents:
  • Main text
  • WJCC-6-224.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: APC: 6662T>C; Met2221Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page