ABCA1 c.*693C>T

Variant ID: 9-107545903-G-A

NM_005502.3(ABCA1):c.*693C>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Role of ABCA1 in Cardiovascular Disease.

Journal Of Personalized Medicine
Wang, Jing J; Xiao, Qianqian Q; Wang, Luyun L; Wang, Yan Y; Wang, Daowen D; Ding, Hu H
Publication Date: 2022-06-20

Variant appearance in text: rs4149338
PubMed Link: 35743794
Variant Present in the following documents:
  • Main text
  • jpm-12-01010.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs4149338
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs4149338
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs4149338
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs4149338
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.

Plos One
Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A
Publication Date: 2016

Variant appearance in text: rs4149338
PubMed Link: 27992526
Variant Present in the following documents:
  • Main text
  • pone.0168423.pdf
View BVdb publication page



Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.

International Journal Of Clinical And Experimental Pathology
Lu, Yuping Y; Liu, Yawen Y; Li, Yong Y; Zhang, Huiping H; Yu, Mingxi M; Kanu, Joseph Sam JS; Qiao, Yichun Y; Tang, Yuan Y; Zhen, Qing Q; Cheng, Yi Y
Publication Date: 2015

Variant appearance in text: rs4149338
PubMed Link: 26722555
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein Quantitative Trait Loci Analysis Identifies Genetic Variation in the Innate Immune Regulator TOLLIP in Post-Lung Transplant Primary Graft Dysfunction Risk.

American Journal Of Transplantation : Official Journal Of The American Society Of Transplantation And The American Society Of Transplant Surgeons
Cantu, E E; Suzuki, Y Y; Diamond, J M JM; Ellis, J J; Tiwari, J J; Beduhn, B B; Nellen, J R JR; Shah, R R; Meyer, N J NJ; Lederer, D J DJ; Kawut, S M SM; Palmer, S M SM; Snyder, L D LD; Hartwig, M G MG; Lama, V N VN; Bhorade, S S; Crespo, M M; Demissie, E E; Wille, K K; Orens, J J; Shah, P D PD; Weinacker, A A; Weill, D D; Wilkes, D D; Roe, D D; Ware, L B LB; Wang, F F; Feng, R R; Christie, J D JD; ,
Publication Date: 2016-03

Variant appearance in text: rs4149338
PubMed Link: 26663441
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating methods for modeling epistasis networks with application to head and neck cancer.

Cancer Informatics
Talluri, Rajesh R; Shete, Sanjay S
Publication Date: 2015

Variant appearance in text: rs4149338
PubMed Link: 25733798
Variant Present in the following documents:
  • cin-suppl.2-2015-017.pdf
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs4149338
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Genetic evidence for role of carotenoids in age-related macular degeneration in the Carotenoids in Age-Related Eye Disease Study (CAREDS).

Investigative Ophthalmology & Visual Science
Meyers, Kristin J KJ; Mares, Julie A JA; Igo, Robert P RP; Truitt, Barbara B; Liu, Zhe Z; Millen, Amy E AE; Klein, Michael M; Johnson, Elizabeth J EJ; Engelman, Corinne D CD; Karki, Chitra K CK; Blodi, Barbara B; Gehrs, Karen K; Tinker, Lesley L; Wallace, Robert R; Robinson, Jennifer J; LeBlanc, Erin S ES; Sarto, Gloria G; Bernstein, Paul S PS; SanGiovanni, John Paul JP; Iyengar, Sudha K SK
Publication Date: 2014-01-29

Variant appearance in text: rs4149338
PubMed Link: 24346170
Variant Present in the following documents:
  • Main text
View BVdb publication page



A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

British Journal Of Cancer
Abulí, A A; Fernández-Rozadilla, C C; Giráldez, M D MD; Muñoz, J J; Gonzalo, V V; Bessa, X X; Bujanda, L L; Reñé, J M JM; Lanas, A A; García, A M AM; Saló, J J; Argüello, L L; Vilella, A A; Carreño, R R; Jover, R R; Xicola, R M RM; Llor, X X; Carvajal-Carmona, L L; Tomlinson, I P M IP; Kerr, D J DJ; Houlston, R S RS; Piqué, J M JM; Carracedo, A A; Castells, A A; Andreu, M M; Ruiz-Ponte, C C; Castellví-Bel, S S; ,
Publication Date: 2011-09-06

Variant appearance in text: rs4149338
PubMed Link: 21811255
Variant Present in the following documents:
  • Main text
  • bjc2011296a.pdf
View BVdb publication page