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NOTCH1 c.931_932inv ;(p.T311V)
Variant ID: 9-139413210-GT-AC
NM_017617.3(
NOTCH1
):c.931_932inv;(p.T311V)
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:
Modulation of the NOTCH1 Pathway by LUNATIC FRINGE Is Dominant over That of MANIC or RADICAL FRINGE.
Molecules (Basel, Switzerland)
Pennarubia, Florian F; Nairn, Alison V AV; Takeuchi, Megumi M; Moremen, Kelley W KW; Haltiwanger, Robert S RS
Publication Date: 2021-09-30
Variant appearance in text: NOTCH1: T311V
PubMed Link:
34641486
Variant Present in the following documents:
Main text
molecules-26-05942.pdf
View BVdb publication page
Two novel protein O-glucosyltransferases that modify sites distinct from POGLUT1 and affect Notch trafficking and signaling.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeuchi, Hideyuki H; Schneider, Michael M; Williamson, Daniel B DB; Ito, Atsuko A; Takeuchi, Megumi M; Handford, Penny A PA; Haltiwanger, Robert S RS
Publication Date: 2018-09-04
Variant appearance in text: NOTCH1: T311V
PubMed Link:
30127001
Variant Present in the following documents:
Main text
View BVdb publication page