NOTCH1 c.1396A>G ;(p.T466A)

Variant ID: 9-139412249-T-C

NM_017617.3(NOTCH1):c.1396A>G;(p.T466A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Functional Characterization of POFUT1 Variants Associated with Colorectal Cancer.

Cancers
Deschuyter, Marlène M; Pennarubia, Florian F; Pinault, Emilie E; Legardinier, Sébastien S; Maftah, Abderrahman A
Publication Date: 2020-05-31

Variant appearance in text: NOTCH1: T466A
PubMed Link: 32486426
Variant Present in the following documents:
  • Main text
  • cancers-12-01430.pdf
View BVdb publication page



A modifier in the 129S2/SvPasCrl genome is responsible for the viability of Notch1[12f/12f] mice.

Bmc Developmental Biology
Varshney, Shweta S; Wei, Hua-Xing HX; Batista, Frank F; Nauman, Mohd M; Sundaram, Subha S; Siminovitch, Katherine K; Tanwar, Ankit A; Stanley, Pamela P
Publication Date: 2019-10-07

Variant appearance in text: NOTCH1: Thr466Ala
PubMed Link: 31590629
Variant Present in the following documents:
  • Main text
  • 12861_2019_Article_199.pdf
View BVdb publication page



Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development.

Scientific Reports
Liu, Yu-Fan YF; Chiang, Shang-Lun SL; Lin, Chien-Yu CY; Chang, Jan-Gowth JG; Chung, Chia-Min CM; Ko, Albert Min-Shan AM; Lin, You-Zhe YZ; Lee, Chien-Hung CH; Lee, Ka-Wo KW; Chen, Mu-Kuan MK; Hua, Chun-Hung CH; Tsai, Ming-Hsui MH; Chen, Yuan-Chien YC; Ko, Ying-Chin YC
Publication Date: 2016-04-01

Variant appearance in text: NOTCH1: T466A
PubMed Link: 27035284
Variant Present in the following documents:
  • Main text
  • srep24014.pdf
View BVdb publication page