NOTCH1 c.4689G>C ;(p.E1563D)

Variant ID: 9-139399454-C-G

NM_017617.3(NOTCH1):c.4689G>C;(p.E1563D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: NOTCH1: E1563D; rs765380569
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations.

The American Journal Of Pathology
Guo, Belinda B BB; Allcock, Richard J RJ; Mirzai, Bob B; Malherbe, Jacques A JA; Choudry, Fizzah A FA; Frontini, Mattia M; Chuah, Hun H; Liang, James J; Kavanagh, Simon E SE; Howman, Rebecca R; Ouwehand, Willem H WH; Fuller, Kathryn A KA; Erber, Wendy N WN
Publication Date: 2017-07

Variant appearance in text: NOTCH1: Glu1563Asp
PubMed Link: 28502479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: NOTCH1: E1563D
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s10.xls, sheet 1
View BVdb publication page