ABCA1 c.2970C>T ;(p.V990=)

Variant ID: 9-107582341-G-A

NM_005502.3(ABCA1):c.2970C>T;(p.V990=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Biorxiv : The Preprint Server For Biology
Braxton, Alicia M AM; Kiemen, Ashley L AL; Grahn, Mia P MP; Forjaz, André A; Babu, Jaanvi Mahesh JM; Zheng, Lily L; Jiang, Liping L; Cheng, Haixia H; Song, Qianqian Q; Reichel, Rebecca R; Graham, Sarah S; Damanakis, Alexander I AI; Fischer, Catherine G CG; Mou, Stephanie S; Metz, Cameron C; Granger, Julie J; Liu, Xiao-Ding XD; Bachmann, Niklas N; Almagro-Pérez, Cristina C; Jiang, Ann Chenyu AC; Yoo, Jeonghyun J; Kim, Bridgette B; Du, Scott S; Foster, Eli E; Hsu, Jocelyn Y JY; Rivera, Paula Andreu PA; Chu, Linda C LC; Liu, Fengze F; Niknafs, Noushin N; Fishman, Elliot K EK; Yuille, Alan A; Roberts, Nicholas J NJ; Thompson, Elizabeth D ED; Scharpf, Robert B RB; Cornish, Toby C TC; Jiao, Yuchen Y; Karchin, Rachel R; Hruban, Ralph H RH; Wu, Pei-Hsun PH; Wirtz, Denis D; Wood, Laura D LD
Publication Date: 2023-01-28

Variant appearance in text: ABCA1: 2970C>T; Val990=
PubMed Link: 36747709
Variant Present in the following documents:
  • media-5.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: rs41277767
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: ABCA1: 2970C>T; Val990Val; rs41277767
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 6
View BVdb publication page