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ABCG2 c.1195-126T>C
Variant ID: 4-89028544-A-G
NM_004827.2(
ABCG2
):c.1195-126T>C
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrative proteogenomic characterization of early esophageal cancer.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25
Variant appearance in text: rs41282399
PubMed Link:
36966136
Variant Present in the following documents:
41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: rs41282399
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs41282399
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression.
Pharmacogenetics And Genomics
Eclov, Rachel J RJ; Kim, Mee J MJ; Chhibber, Aparna A; Smith, Robin P RP; Ahituv, Nadav N; Kroetz, Deanna L DL
Publication Date: 2017-12
Variant appearance in text: rs41282399
PubMed Link:
28930109
Variant Present in the following documents:
Main text
View BVdb publication page