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TSC2 c.1726_1727delinsGC ;(p.Y576A)
Variant ID: 16-2120466-TA-GC
NM_000548.3(
TSC2
):c.1726_1727delinsGC;(p.Y576A)
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:
The stress response protein REDD1 promotes diabetes-induced oxidative stress in the retina by Keap1-independent Nrf2 degradation.
The Journal Of Biological Chemistry
Miller, William P WP; Sunilkumar, Siddharth S; Giordano, Joseph F JF; Toro, Allyson L AL; Barber, Alistair J AJ; Dennis, Michael D MD
Publication Date: 2020-05-22
Variant appearance in text: TSC2: Y576A
PubMed Link:
32295843
Variant Present in the following documents:
Main text
View BVdb publication page