NOTCH1 c.1712A>C ;(p.D571A)

Variant ID: 9-139410126-T-G

NM_017617.3(NOTCH1):c.1712A>C;(p.D571A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Plos One
Cui, Ying Y; Kim, Hae-Suk HS; Cho, Eunae Sandra ES; Han, Dawool D; Park, Jung Ah JA; Park, Ju Yeong JY; Nam, Woong W; Kim, Hyung Jun HJ; Cha, In-Ho IH; Cha, Yong Hoon YH
Publication Date: 2021

Variant appearance in text: NOTCH1: 1712A>C; D571A
PubMed Link: 34478472
Variant Present in the following documents:
  • pone.0256979.s003.xlsx, sheet 1
View BVdb publication page



Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.

Frontiers In Oncology
Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT
Publication Date: 2021

Variant appearance in text: NOTCH1: D571A
PubMed Link: 34336686
Variant Present in the following documents:
  • Table_1.xlsx, sheet 6
  • Table_1.xlsx, sheet 8
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: NOTCH1: 1712A>C; Asp571Ala
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 9
View BVdb publication page