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ABCA1 c.2816A>T ;(p.K939M)
Variant ID: 9-107584789-T-A
NM_005502.3(
ABCA1
):c.2816A>T;(p.K939M)
This variant was identified in 10 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Orthogonal lipid sensors identify transbilayer asymmetry of plasma membrane cholesterol.
Nature Chemical Biology
Liu, Shu-Lin SL; Sheng, Ren R; Jung, Jae Hun JH; Wang, Li L; Stec, Ewa E; O'Connor, Matthew J MJ; Song, Seohyoen S; Bikkavilli, Rama Kamesh RK; Winn, Robert A RA; Lee, Daesung D; Baek, Kwanghee K; Ueda, Kazumitsu K; Levitan, Irena I; Kim, Kwang-Pyo KP; Cho, Wonhwa W
Publication Date: 2017-03
Variant appearance in text: ABCA1: K939M
PubMed Link:
28024150
Variant Present in the following documents:
Main text
View BVdb publication page
ABCA1 and nascent HDL biogenesis.
Biofactors (Oxford, England)
Wang, Shuhui S; Smith, Jonathan D JD
Publication Date: 2014
Variant appearance in text: ABCA1: K939M
PubMed Link:
25359426
Variant Present in the following documents:
Main text
View BVdb publication page
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
The Journal Of Biological Chemistry
Quazi, Faraz F; Molday, Robert S RS
Publication Date: 2013-11-29
Variant appearance in text: ABCA1: K939M
PubMed Link:
24097981
Variant Present in the following documents:
Main text
View BVdb publication page
ABCA1 mediates unfolding of apolipoprotein AI N terminus on the cell surface before lipidation and release of nascent high-density lipoprotein.
Arteriosclerosis, Thrombosis, And Vascular Biology
Wang, Shuhui S; Gulshan, Kailash K; Brubaker, Gregory G; Hazen, Stanley L SL; Smith, Jonathan D JD
Publication Date: 2013-06
Variant appearance in text: ABCA1: K939M
PubMed Link:
23559627
Variant Present in the following documents:
Main text
View BVdb publication page
ABCA1 dimer-monomer interconversion during HDL generation revealed by single-molecule imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Nagata, Koh O KO; Nakada, Chieko C; Kasai, Rinshi S RS; Kusumi, Akihiro A; Ueda, Kazumitsu K
Publication Date: 2013-03-26
Variant appearance in text: ABCA1: K939M
PubMed Link:
23479619
Variant Present in the following documents:
Main text
View BVdb publication page
ATP hydrolysis-dependent conformational changes in the extracellular domain of ABCA1 are associated with apoA-I binding.
Journal Of Lipid Research
Nagao, Kohjiro K; Takahashi, Kei K; Azuma, Yuya Y; Takada, Mie M; Kimura, Yasuhisa Y; Matsuo, Michinori M; Kioka, Noriyuki N; Ueda, Kazumitsu K
Publication Date: 2012-01
Variant appearance in text: ABCA1: K939M
PubMed Link:
22028339
Variant Present in the following documents:
Main text
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: K939M
PubMed Link:
19258317
Variant Present in the following documents:
Main text
View BVdb publication page
Sodium taurocholate-dependent lipid efflux by ABCA1: effects of W590S mutation on lipid translocation and apolipoprotein A-I dissociation.
Journal Of Lipid Research
Nagao, Kohjiro K; Zhao, Yu Y; Takahashi, Kei K; Kimura, Yasuhisa Y; Ueda, Kazumitsu K
Publication Date: 2009-06
Variant appearance in text: ABCA1: K939M
PubMed Link:
19202195
Variant Present in the following documents:
Main text
View BVdb publication page
A PEST sequence in ABCA1 regulates degradation by calpain protease and stabilization of ABCA1 by apoA-I.
The Journal Of Clinical Investigation
Wang, Nan N; Chen, Wengen W; Linsel-Nitschke, Patrick P; Martinez, Laurent O LO; Agerholm-Larsen, Birgit B; Silver, David L DL; Tall, Alan R AR
Publication Date: 2003-01
Variant appearance in text: ABCA1: K939M
PubMed Link:
12511593
Variant Present in the following documents:
Main text
View BVdb publication page