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TP53 c.1148T>A ;(p.L383H)
Variant ID: 17-7572961-A-T
NM_000546.5(
TP53
):c.1148T>A;(p.L383H)
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:
Transcriptomic and Mutational Analysis Discovering Distinct Molecular Characteristics Among Chinese Thymic Epithelial Tumor Patients.
Frontiers In Oncology
Liang, Naixin N; Liu, Lei L; Huang, Cheng C; Liu, Hongsheng H; Guo, Chao C; Li, Ji J; Wang, Weiwei W; Li, Nan N; Lin, Rui R; Wang, Tao T; Ding, Lieming L; Mao, Li L; Li, Shanqing S
Publication Date: 2021
Variant appearance in text: TP53: L383H
PubMed Link:
34568003
Variant Present in the following documents:
Main text
fonc-11-647512.pdf
View BVdb publication page
Mutant GTF2I induces cell transformation and metabolic alterations in thymic epithelial cells.
Cell Death And Differentiation
Kim, In-Kyu IK; Rao, Guanhua G; Zhao, Xiaoliang X; Fan, Ruzong R; Avantaggiati, Maria Laura ML; Wang, Yisong Y; Zhang, Yu-Wen YW; Giaccone, Giuseppe G
Publication Date: 2020-07
Variant appearance in text: p53: Leu383His
PubMed Link:
32034314
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: TP53: L383H
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s5.xls, sheet 1
View BVdb publication page