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KIT c.1051_1052delinsGC ;(p.M351A)
Variant ID: 4-55573389-AT-GC
NM_000222.2(
KIT
):c.1051_1052delinsGC;(p.M351A)
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:
Suppression of insulin-induced gene 1 (INSIG1) function promotes hepatic lipid remodelling and restrains NASH progression.
Molecular Metabolism
Azzu, Vian V; Vacca, Michele M; Kamzolas, Ioannis I; Hall, Zoe Z; Leslie, Jack J; Carobbio, Stefania S; Virtue, Samuel S; Davies, Susan E SE; Lukasik, Agnes A; Dale, Martin M; Bohlooly-Y, Mohammad M; Acharjee, Animesh A; Lindén, Daniel D; Bidault, Guillaume G; Petsalaki, Evangelia E; Griffin, Julian L JL; Oakley, Fiona F; Allison, Michael E D MED; Vidal-Puig, Antonio A
Publication Date: 2021-06
Variant appearance in text: KIT: M351A
PubMed Link:
33722690
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page