NOTCH1 c.756G>C ;(p.Q252H)

Variant ID: 9-139414004-C-G

NM_017617.3(NOTCH1):c.756G>C;(p.Q252H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: Q252H
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific Reports
Au, K S KS; Hebert, L L; Hillman, P P; Baker, C C; Brown, M R MR; Kim, D-K DK; Soldano, K K; Garrett, M M; Ashley-Koch, A A; Lee, S S; Gleeson, J J; Hixson, J E JE; Morrison, A C AC; Northrup, H H
Publication Date: 2021-02-11

Variant appearance in text: NOTCH1: Q252H
PubMed Link: 33574475
Variant Present in the following documents:
  • 41598_2021_83058_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Effects of resveratrol, curcumin, berberine and other nutraceuticals on aging, cancer development, cancer stem cells and microRNAs.

Aging
McCubrey, James A JA; Lertpiriyapong, Kvin K; Steelman, Linda S LS; Abrams, Steve L SL; Yang, Li V LV; Murata, Ramiro M RM; Rosalen, Pedro L PL; Scalisi, Aurora A; Neri, Luca M LM; Cocco, Lucio L; Ratti, Stefano S; Martelli, Alberto M AM; Laidler, Piotr P; DuliƄska-Litewka, Joanna J; Rakus, Dariusz D; Gizak, Agnieszka A; Lombardi, Paolo P; Nicoletti, Ferdinando F; Candido, Saverio S; Libra, Massimo M; Montalto, Giuseppe G; Cervello, Melchiorre M
Publication Date: 2017-06-12

Variant appearance in text: NOTCH1: Q252H
PubMed Link: 28611316
Variant Present in the following documents:
  • Main text
View BVdb publication page