TG c.1456_1457delinsAA ;(p.S486N)

Variant ID: 8-133899073-TC-AA

NM_003235.4(TG):c.1456_1457delinsAA;(p.S486N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: TG: Ser486Asn
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 5
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: TG: S486N
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
View BVdb publication page



HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.

Bmc Endocrine Disorders
Beysel, Selvihan S; Eyerci, Nilnur N; Pinarli, Ferda Alparslan FA; Kizilgul, Muhammed M; Ozcelik, Ozgur O; Caliskan, Mustafa M; Cakal, Erman E
Publication Date: 2019-05-20

Variant appearance in text: TG: Ser486Asn
PubMed Link: 31109344
Variant Present in the following documents:
  • Main text
  • 12902_2019_Article_375.pdf
View BVdb publication page