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ABCA1 c.5849C>T ;(p.A1950V)
Variant ID: 9-107553281-G-A
NM_005502.3(
ABCA1
):c.5849C>T;(p.A1950V)
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:
ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation.
Journal Of Lipid Research
Vaughan, Ashley M AM; Tang, Chongren C; Oram, John F JF
Publication Date: 2009-02
Variant appearance in text: ABCA1: A1950V
PubMed Link:
18776170
Variant Present in the following documents:
Main text
View BVdb publication page