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.




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
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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
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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
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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
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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
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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
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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
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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
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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