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NOTCH1 c.1396A>G ;(p.T466A)
Variant ID: 9-139412249-T-C
NM_017617.3(
NOTCH1
):c.1396A>G;(p.T466A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: T466A
PubMed Link:
32486426
Variant Present in the following documents:
Main text
cancers-12-01430.pdf
View BVdb publication page
A modifier in the 129S2/SvPasCrl genome is responsible for the viability of Notch1[12f/12f] mice.
Bmc Developmental Biology
Varshney, Shweta S; Wei, Hua-Xing HX; Batista, Frank F; Nauman, Mohd M; Sundaram, Subha S; Siminovitch, Katherine K; Tanwar, Ankit A; Stanley, Pamela P
Publication Date: 2019-10-07
Variant appearance in text: NOTCH1: Thr466Ala
PubMed Link:
31590629
Variant Present in the following documents:
Main text
12861_2019_Article_199.pdf
View BVdb publication page
Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development.
Scientific Reports
Liu, Yu-Fan YF; Chiang, Shang-Lun SL; Lin, Chien-Yu CY; Chang, Jan-Gowth JG; Chung, Chia-Min CM; Ko, Albert Min-Shan AM; Lin, You-Zhe YZ; Lee, Chien-Hung CH; Lee, Ka-Wo KW; Chen, Mu-Kuan MK; Hua, Chun-Hung CH; Tsai, Ming-Hsui MH; Chen, Yuan-Chien YC; Ko, Ying-Chin YC
Publication Date: 2016-04-01
Variant appearance in text: NOTCH1: T466A
PubMed Link:
27035284
Variant Present in the following documents:
Main text
srep24014.pdf
View BVdb publication page