FANCI c.3925-251A>G

Variant ID: 15-89859377-A-G

NM_001113378.1(FANCI):c.3925-251A>G

This variant was identified in 9 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: rs976072
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



POLG Gene Variants in Cervical Cancer Patients and Their Associations with Clinical and Pathomorphological Tumor Characteristics.

Journal Of Clinical Medicine
Golubickaite, Ieva I; Ugenskiene, Rasa R; Ziliene, Egle E; Beniusyte, Jurgita J; Inciura, Arturas A; Poskiene, Lina L; Juozaityte, Elona E
Publication Date: 2021-04-23

Variant appearance in text: rs976072
PubMed Link: 33922707
Variant Present in the following documents:
  • Main text
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: rs976072
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: rs976072
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guérin.

Plos One
Wei, Hua H; Kamat, Ashish A; Chen, Meng M; Ke, Hung-Lung HL; Chang, David W DW; Yin, Jikai J; Grossman, H Barton HB; Dinney, Colin P CP; Wu, Xifeng X
Publication Date: 2012

Variant appearance in text: rs976072
PubMed Link: 22701660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer.

Carcinogenesis
Li, Donghui D; Duell, Eric J EJ; Yu, Kai K; Risch, Harvey A HA; Olson, Sara H SH; Kooperberg, Charles C; Wolpin, Brian M BM; Jiao, Li L; Dong, Xiaoqun X; Wheeler, Bill B; Arslan, Alan A AA; Bueno-de-Mesquita, H Bas HB; Fuchs, Charles S CS; Gallinger, Steven S; Gross, Myron M; Hartge, Patricia P; Hoover, Robert N RN; Holly, Elizabeth A EA; Jacobs, Eric J EJ; Klein, Alison P AP; LaCroix, Andrea A; Mandelson, Margaret T MT; Petersen, Gloria G; Zheng, Wei W; Agalliu, Ilir I; Albanes, Demetrius D; Boutron-Ruault, Marie-Christine MC; Bracci, Paige M PM; Buring, Julie E JE; Canzian, Federico F; Chang, Kenneth K; Chanock, Stephen J SJ; Cotterchio, Michelle M; Gaziano, J Michael JM; Giovannucci, Edward L EL; Goggins, Michael M; Hallmans, Göran G; Hankinson, Susan E SE; Hoffman Bolton, Judith A JA; Hunter, David J DJ; Hutchinson, Amy A; Jacobs, Kevin B KB; Jenab, Mazda M; Khaw, Kay-Tee KT; Kraft, Peter P; Krogh, Vittorio V; Kurtz, Robert C RC; McWilliams, Robert R RR; Mendelsohn, Julie B JB; Patel, Alpa V AV; Rabe, Kari G KG; Riboli, Elio E; Shu, Xiao-Ou XO; Tjønneland, Anne A; Tobias, Geoffrey S GS; Trichopoulos, Dimitrios D; Virtamo, Jarmo J; Visvanathan, Kala K; Watters, Joanne J; Yu, Herbert H; Zeleniuch-Jacquotte, Anne A; Amundadottir, Laufey L; Stolzenberg-Solomon, Rachael Z RZ
Publication Date: 2012-07

Variant appearance in text: rs976072
PubMed Link: 22523087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives
Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC
Publication Date: 2011-12

Variant appearance in text: rs976072
PubMed Link: 21810555
Variant Present in the following documents:
  • ehp.1103454.s001.pdf
View BVdb publication page



A large-scale candidate gene association study of age at menarche and age at natural menopause.

Human Genetics
He, Chunyan C; Kraft, Peter P; Chasman, Daniel I DI; Buring, Julie E JE; Chen, Constance C; Hankinson, Susan E SE; Paré, Guillaume G; Chanock, Stephen S; Ridker, Paul M PM; Hunter, David J DJ
Publication Date: 2010-11

Variant appearance in text: rs976072
PubMed Link: 20734064
Variant Present in the following documents:
  • Main text
View BVdb publication page