NOTCH1 c.2989A>G ;(p.T997A)

Variant ID: 9-139403504-T-C

NM_017617.3(NOTCH1):c.2989A>G;(p.T997A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mouse WIF1 Is Only Modified with O-Fucose in Its EGF-like Domain III Despite Two Evolutionarily Conserved Consensus Sites.

Biomolecules
Pennarubia, Florian F; Pinault, Emilie E; Al Jaam, Bilal B; Brun, Caroline E CE; Maftah, Abderrahman A; Germot, Agnès A; Legardinier, Sébastien S
Publication Date: 2020-08-28

Variant appearance in text: NOTCH1: T997A
PubMed Link: 32872229
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01250.pdf
View BVdb publication page



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: T997A
PubMed Link: 32486426
Variant Present in the following documents:
  • Main text
  • cancers-12-01430.pdf
View BVdb publication page