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TP53 c.1042_1043delinsGA ;(p.L348E)
Variant ID: 17-7573984-AA-TC
NM_000546.5(
TP53
):c.1042_1043delinsGA;(p.L348E)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
p53 opens the mitochondrial permeability transition pore to trigger necrosis.
Cell
Vaseva, Angelina V AV; Marchenko, Natalie D ND; Ji, Kyungmin K; Tsirka, Stella E SE; Holzmann, Sonja S; Moll, Ute M UM
Publication Date: 2012-06-22
Variant appearance in text: p53: L348E
PubMed Link:
22726440
Variant Present in the following documents:
Main text
View BVdb publication page