ABCA1 c.5552G>A ;(p.R1851Q)

Variant ID: 9-107555536-C-T

NM_005502.3(ABCA1):c.5552G>A;(p.R1851Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Single-cell transcriptomics links malignant T cells to the tumor immune landscape in cutaneous T cell lymphoma.

Nature Communications
Liu, Xiangjun X; Jin, Shanzhao S; Hu, Simeng S; Li, Ruoyan R; Pan, Haihao H; Liu, Yi Y; Lai, Pan P; Xu, Deshu D; Sun, Jingru J; Liu, Ziyang Z; Gao, Yumei Y; Zhao, Yifan Y; Liu, Fengjie F; Xiao, Yu Y; Li, Yingyi Y; Wen, Yujie Y; Chen, Zhuojing Z; Xu, Bufang B; Lin, Yuchieh Y; Ran, Menglong M; Li, Qianxi Q; Yang, Shuxia S; Li, Hang H; Tu, Ping P; Haniffa, Muzlifah M; Teichmann, Sarah A SA; Bai, Fan F; Wang, Yang Y
Publication Date: 2022-03-03

Variant appearance in text: ABCA1: 5552G>A; R1851Q
PubMed Link: 35241665
Variant Present in the following documents:
  • 41467_2022_28799_MOESM6_ESM.xlsx, sheet 5
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs1055285452
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: ABCA1: 5552G>A; Arg1851Gln
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCA1: R1851Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol
Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A
Publication Date: 2014

Variant appearance in text: ABCA1: R1851Q
PubMed Link: 25215231
Variant Present in the following documents:
  • CHOLESTEROL2014-639751.pdf
View BVdb publication page



Do mutations causing low HDL-C promote increased carotid intima-media thickness?

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Miller, Michael M; Rhyne, Jeffrey J; Hong, Seung Ho SH; Friel, Gina G; Dolinar, Christina C; Riley, Ward W
Publication Date: 2007-02

Variant appearance in text: ABCA1: R1851Q
PubMed Link: 17113061
Variant Present in the following documents:
  • Main text
View BVdb publication page