ABCA1 c.1222G>A ;(p.V408M)

Variant ID: 9-107599350-C-T

NM_005502.3(ABCA1):c.1222G>A;(p.V408M)

This variant was identified in 5 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Cholesterol in the Cell Membrane-An Emerging Player in Atherogenesis.

International Journal Of Molecular Sciences
Paukner, Karel K; Králová Lesná, Ivana I; Poledne, Rudolf R
Publication Date: 2022-01-04

Variant appearance in text: ABCA1: V408M
PubMed Link: 35008955
Variant Present in the following documents:
  • Main text
  • ijms-23-00533.pdf
View BVdb publication page


Cholesterol in the Cell Membrane-An Emerging Player in Atherogenesis.

International Journal Of Molecular Sciences
Paukner, Karel K; Králová Lesná, Ivana I; Poledne, Rudolf R
Publication Date: 2022-01-04

Variant appearance in text: ABCA1: V408M
PubMed Link: 35008955
Variant Present in the following documents:
  • Main text
  • ijms-23-00533.pdf
View BVdb publication page


Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Biomedicines
Martín-Campos, Jesús Maria JM
Publication Date: 2021-11-19

Variant appearance in text: ABCA1: V408M
PubMed Link: 34829957
Variant Present in the following documents:
  • biomedicines-09-01728.pdf
View BVdb publication page


The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2016-12

Variant appearance in text: ABCA1: Val408Met
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page


Maternal immunization affects in utero programming of insulin resistance and type 2 diabetes.

Plos One
Eberle, Claudia C; Merki, Esther E; Yamashita, Tomoya T; Johnson, Susie S; Armando, Aaron M AM; Quehenberger, Oswald O; Napoli, Claudio C; Palinski, Wulf W
Publication Date: 2012

Variant appearance in text: ABCA1: V408M
PubMed Link: 23028961
Variant Present in the following documents:
  • pone.0045361.pdf
View BVdb publication page


Genetic variation and atherosclerosis.

Current Genomics
Biros, Erik E; Karan, Mirko M; Golledge, Jonathan J
Publication Date: 2008-03

Variant appearance in text: ABCA1: V408M
PubMed Link: 19424482
Variant Present in the following documents:
  • Main text
  • CG-9-29.pdf
View BVdb publication page