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MLXIPL c.283_284delinsGC ;(p.L95A)
Variant ID: 7-73038539-AG-GC
NM_032951.2(
MLXIPL
):c.283_284delinsGC;(p.L95A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A novel N-terminal domain may dictate the glucose response of Mondo proteins.
Plos One
McFerrin, Lisa G LG; Atchley, William R WR
Publication Date: 2012
Variant appearance in text: MLXIPL: L95A
PubMed Link:
22506051
Variant Present in the following documents:
Main text
pone.0034803.pdf
View BVdb publication page
Activation and repression of glucose-stimulated ChREBP requires the concerted action of multiple domains within the MondoA conserved region.
American Journal Of Physiology. Endocrinology And Metabolism
Davies, Michael N MN; O'Callaghan, Brennon L BL; Towle, Howard C HC
Publication Date: 2010-10
Variant appearance in text: CHREBP: L95A
PubMed Link:
20682844
Variant Present in the following documents:
Main text
View BVdb publication page