ABCC4 c.2214-65T>A

Variant ID: 13-95815535-A-T

NM_005845.3(ABCC4):c.2214-65T>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3765535
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs3765535
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_7.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: rs3765535
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs3765535
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk.

Plos One
de Maturana, Evangelina López EL; Ye, Yuanqing Y; Calle, M Luz ML; Rothman, Nathaniel N; Urrea, Víctor V; Kogevinas, Manolis M; Petrus, Sandra S; Chanock, Stephen J SJ; Tardón, Adonina A; García-Closas, Montserrat M; González-Neira, Anna A; Vellalta, Gemma G; Carrato, Alfredo A; Navarro, Arcadi A; Lorente-Galdós, Belén B; Silverman, Debra T DT; Real, Francisco X FX; Wu, Xifeng X; Malats, Núria N
Publication Date: 2013

Variant appearance in text: rs3765535
PubMed Link: 24391818
Variant Present in the following documents:
  • Main text
  • pone.0083745.pdf
View BVdb publication page



HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.

Plos One
Andrew, Angeline S AS; Hu, Ting T; Gu, Jian J; Gui, Jiang J; Ye, Yuanqing Y; Marsit, Carmen J CJ; Kelsey, Karl T KT; Schned, Alan R AR; Tanyos, Sam A SA; Pendleton, Eben M EM; Mason, Rebecca A RA; Morlock, Elaine V EV; Zens, Michael S MS; Li, Zhongze Z; Moore, Jason H JH; Wu, Xifeng X; Karagas, Margaret R MR
Publication Date: 2012

Variant appearance in text: rs3765535
PubMed Link: 23284679
Variant Present in the following documents:
  • Main text
  • pone.0051301.pdf
View BVdb publication page