ABCA1 c.79C>T ;(p.L27=)

Variant ID: 9-107651464-G-A

NM_005502.3(ABCA1):c.79C>T;(p.L27=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg
Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T
Publication Date: 2022-01

Variant appearance in text: ABCA1: 79C>T
PubMed Link: 34878611
Variant Present in the following documents:
  • 438_2021_1842_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg
Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T
Publication Date: 2021-12-08

Variant appearance in text: ABCA1: 79C>T
PubMed Link: 34878611
Variant Present in the following documents:
  • 438_2021_1842_MOESM2_ESM.xlsx, sheet 4
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: ABCA1: L27L
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ABCA1: L27L
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: ABCA1: 79C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page