ABCA1 c.242G>C ;(p.C81S)

Variant ID: 9-107646768-C-G

NM_005502.3(ABCA1):c.242G>C;(p.C81S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: ABCA1: 242G>C; C81S
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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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: C81S
PubMed Link: 19258317
Variant Present in the following documents:
  • Main text
View BVdb publication page