ABCB4 c.1270A>G ;(p.T424A)

Variant ID: 7-87072721-T-C

NM_000443.3(ABCB4):c.1270A>G;(p.T424A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular overview of progressive familial intrahepatic cholestasis.

World Journal Of Gastroenterology
Amirneni, Sriram S; Haep, Nils N; Gad, Mohammad A MA; Soto-Gutierrez, Alejandro A; Squires, James E JE; Florentino, Rodrigo M RM
Publication Date: 2020-12-21

Variant appearance in text: MDR3: T424A
PubMed Link: 33384548
Variant Present in the following documents:
  • Main text
  • WJG-26-7470.pdf
View BVdb publication page



Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.

Disease Markers
Saleem, Komal K; Cui, Qingbo Q; Zaib, Tahir T; Zhu, Siqi S; Qin, Qian Q; Wang, Yusi Y; Dam, Jinxi J; Ji, Wei W; Liu, Peng P; Jia, Xueyuan X; Wu, Jie J; Bai, Jing J; Fu, Songbin S; Sun, Wenjing W
Publication Date: 2020

Variant appearance in text: ABCB4: T424A
PubMed Link: 32626542
Variant Present in the following documents:
  • Main text
  • DM2020-6292818.pdf
View BVdb publication page



MDR3 mutation analysis: A step closer to precision medicine.

Hepatology (Baltimore, Md.)
Bezerra, Jorge A JA
Publication Date: 2016-05

Variant appearance in text: ABCB4: T424A
PubMed Link: 26680260
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCB4: T424A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page