NOTCH1 c.4598A>G ;(p.D1533G)

Variant ID: 9-139399545-T-C

NM_017617.3(NOTCH1):c.4598A>G;(p.D1533G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Concomitant Mutations G12D and G13D on the Exon 2 of the KRAS Gene: Two Cases of Women with Colon Adenocarcinoma.

Diagnostics (Basel, Switzerland)
De Falco, Elena E; Pacini, Luca L; Bastianelli, Daniela D; Spinelli, Gian Paolo GP; Spoto, Chiara C; Veltri, Enzo E; Calogero, Antonella A
Publication Date: 2021-04-06

Variant appearance in text: NOTCH1: 4598A>G; D1533G
PubMed Link: 33917572
Variant Present in the following documents:
  • Main text
View BVdb publication page



The T-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling.

Leukemia
Girardi, T T; Vereecke, S S; Sulima, S O SO; Khan, Y Y; Fancello, L L; Briggs, J W JW; Schwab, C C; de Beeck, J Op JO; Verbeeck, J J; Royaert, J J; Geerdens, E E; Vicente, C C; Bornschein, S S; Harrison, C J CJ; Meijerink, J P JP; Cools, J J; Dinman, J D JD; Kampen, K R KR; De Keersmaecker, K K
Publication Date: 2018-03

Variant appearance in text: NOTCH1: D1533G
PubMed Link: 28744013
Variant Present in the following documents:
  • NIHMS73329-supplement-Supplementary_Tables.pdf
View BVdb publication page