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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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