NF1 c.4709A>G ;(p.E1570G)

Variant ID: 17-29588860-A-G

NM_001042492.2(NF1):c.4709A>G;(p.E1570G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Molecular Oncology
Mancikova, Veronika V; Pesova, Michaela M; Pavlova, Sarka S; Helma, Robert R; Zavacka, Kristyna K; Hejret, Vaclav V; Taus, Petr P; Hynst, Jakub J; Plevova, Karla K; Malcikova, Jitka J; Pospisilova, Sarka S
Publication Date: 2022-11-05

Variant appearance in text: NF1: 4709A>G; Glu1570Gly
PubMed Link: 36334078
Variant Present in the following documents:
  • MOL2-17-82-s003.pdf
View BVdb publication page



Acquired somatic variants in inherited myeloid malignancies.

Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-05

Variant appearance in text: NF1: E1570G
PubMed Link: 35140362
Variant Present in the following documents:
  • 41375_2022_1515_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page