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ABCA1 c.1338C>A ;(p.D446E)
Variant ID: 9-107595026-G-T
NM_005502.3(
ABCA1
):c.1338C>A;(p.D446E)
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:
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020
Variant appearance in text: rs148314522
PubMed Link:
34541464
Variant Present in the following documents:
cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04
Variant appearance in text: ABCA1: D446E; rs148314522
PubMed Link:
24503134
Variant Present in the following documents:
supp_D045963_jlr.D045963-1.pdf
View BVdb publication page