ABCA1 c.2080_2082del ;(p.L694del)

Variant ID: 9-107591229-CAAG-C

NM_005502.3(ABCA1):c.2080_2082del;(p.L694del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: ABCA1: 2079_2081del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ABCA1: Leu694del
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Elucidating the Structural Features of ABCA1 in its Heterogeneous Membrane Environment.

Frontiers In Molecular Biosciences
Sunidhi, S S; Sacher, Sukriti S; Atul, ; Garg, Parth P; Ray, Arjun A
Publication Date: 2021

Variant appearance in text: ABCA1: L694del
PubMed Link: 35155567
Variant Present in the following documents:
  • Main text
  • fmolb-08-803078.pdf
View BVdb publication page