ABCA1 c.318C>G ;(p.F106L)

Variant ID: 9-107645423-G-C

NM_005502.3(ABCA1):c.318C>G;(p.F106L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications
Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ
Publication Date: 2022-11-04

Variant appearance in text: ABCA1: Phe106Leu
PubMed Link: 36333282
Variant Present in the following documents:
  • 41467_2022_34163_MOESM3_ESM.xlsx, sheet 8
  • 41467_2022_34163_MOESM3_ESM.xlsx, sheet 11
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: rs771480741
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page