ABCA1 c.161G>A ;(p.C54Y)

Variant ID: 9-107646849-C-T

NM_005502.3(ABCA1):c.161G>A;(p.C54Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular structures of the eukaryotic retinal importer ABCA4.

Elife
Liu, Fangyu F; Lee, James J; Chen, Jue J
Publication Date: 2021-02-19

Variant appearance in text: ABCA1: C54Y
PubMed Link: 33605212
Variant Present in the following documents:
  • Main text
  • elife-63524.pdf
View BVdb publication page



Molecular structures of the eukaryotic retinal importer ABCA4.

Elife
Liu, Fangyu F; Lee, James J; Chen, Jue J
Publication Date: 2021-02-19

Variant appearance in text: ABCA1: C54Y
PubMed Link: 33605212
Variant Present in the following documents:
  • Main text
  • elife-63524.pdf
View BVdb publication page



Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.

Advances In Experimental Medicine And Biology
Wang, Helen H HH; Liu, Min M; Portincasa, Piero P; Wang, David Q-H DQ
Publication Date: 2020

Variant appearance in text: ABCA1: C54Y
PubMed Link: 32705597
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels.

Plos One
Li, Qing Q; Yin, Rui-Xing RX; Wei, Xian-Liang XL; Yan, Ting-Ting TT; Aung, Lynn Htet Htet LH; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX; Liu, Cheng-Wu CW; Pan, Shang-Ling SL
Publication Date: 2012

Variant appearance in text: ABCA1: C54Y
PubMed Link: 22655090
Variant Present in the following documents:
  • Main text
  • pone.0037972.pdf
View BVdb publication page



Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.

Atherosclerosis
Garcia-Rios, A A; Perez-Martinez, P P; Fuentes, F F; Mata, P P; Lopez-Miranda, J J; Alonso, R R; Rodriguez, F F; Garcia-Olid, A A; Ruano, J J; Ordovas, J M JM; Perez-Jimenez, F F
Publication Date: 2010-06

Variant appearance in text: ABCA1: C54Y
PubMed Link: 20172523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.

Bmc Genetics
Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM
Publication Date: 2009-08-14

Variant appearance in text: ABCA1: C54Y
PubMed Link: 19682384
Variant Present in the following documents:
View BVdb publication page



Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1.

The Journal Of Biological Chemistry
Hozoji, Masako M; Kimura, Yasuhisa Y; Kioka, Noriyuki N; Ueda, Kazumitsu K
Publication Date: 2009-04-24

Variant appearance in text: ABCA1: C54Y
PubMed Link: 19258317
Variant Present in the following documents:
  • Main text
View BVdb publication page