MCM3AP c.2628+247G>A

Variant ID: 21-47690068-C-T

NM_003906.3(MCM3AP):c.2628+247G>A

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Testicular teratomagenesis from primordial germ cells with overexpression of germinal center-associated nuclear protein.

Cancer Science
Sakai, Yasuhiro Y; Yoshinaga, Kazuya K; Yoshida, Ayaka A; Rezano, Andri A; Shiogama, Kazuya K; Kawashima, Yoshiaki Y; Yoshizawa, Tadashi T; Yoshizawa, Akihiko A; Hatakeyama, Shingo S; Ohyama, Chikara C; Ito, Hiroyasu H; Abe, Masato M; Kijima, Hiroshi H; Otsuki, Yoshiro Y; Ito, Akihiko A; Tsuzuki, Toyonori T; Takeya, Motohiro M; Sakaguchi, Nobuo N; Kuwahara, Kazuhiko K
Publication Date: 2022-12-07

Variant appearance in text: rs2839186
PubMed Link: 36479731
Variant Present in the following documents:
  • Main text
  • CAS-114-1729.pdf
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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: rs2839186
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Evolution and Comprehensive Analysis of DNaseI Hypersensitive Sites in Regulatory Regions of Primate Brain-Related Genes.

Frontiers In Genetics
Lu, Yueer Y; Wang, Xiao X; Yu, Hang H; Li, Jianlin J; Jiang, Zhiqiang Z; Chen, Bangwei B; Lu, Yueqi Y; Wang, Wei W; Han, Chongyin C; Ouyang, Ying Y; Huang, Lizhen L; Chen, Chunbo C; Tian, Weidong W; Ling, Fei F
Publication Date: 2019

Variant appearance in text: rs2839186
PubMed Link: 30930929
Variant Present in the following documents:
  • Main text
  • fgene-10-00152.pdf
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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: MCM3AP: 2628+247G>A; rs2839186
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

Nature Genetics
Wang, Zhaoming Z; McGlynn, Katherine A KA; Rajpert-De Meyts, Ewa E; Bishop, D Timothy DT; Chung, Charles C CC; Dalgaard, Marlene D MD; Greene, Mark H MH; Gupta, Ramneek R; Grotmol, Tom T; Haugen, Trine B TB; Karlsson, Robert R; Litchfield, Kevin K; Mitra, Nandita N; Nielsen, Kasper K; Pyle, Louise C LC; Schwartz, Stephen M SM; Thorsson, Vésteinn V; Vardhanabhuti, Saran S; Wiklund, Fredrik F; Turnbull, Clare C; Chanock, Stephen J SJ; Kanetsky, Peter A PA; Nathanson, Katherine L KL; ,
Publication Date: 2017-07

Variant appearance in text: rs2839186
PubMed Link: 28604732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

Nature Genetics
Litchfield, Kevin K; Levy, Max M; Orlando, Giulia G; Loveday, Chey C; Law, Philip J PJ; Migliorini, Gabriele G; Holroyd, Amy A; Broderick, Peter P; Karlsson, Robert R; Haugen, Trine B TB; Kristiansen, Wenche W; Nsengimana, Jérémie J; Fenwick, Kerry K; Assiotis, Ioannis I; Kote-Jarai, ZSofia Z; Dunning, Alison M AM; Muir, Kenneth K; Peto, Julian J; Eeles, Rosalind R; Easton, Douglas F DF; Dudakia, Darshna D; Orr, Nick N; Pashayan, Nora N; , ; , ; Bishop, D Timothy DT; Reid, Alison A; Huddart, Robert A RA; Shipley, Janet J; Grotmol, Tom T; Wiklund, Fredrik F; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2017-07

Variant appearance in text: rs2839186
PubMed Link: 28604728
Variant Present in the following documents:
  • Main text
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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.

Genes, Chromosomes & Cancer
Marcotte, Erin L EL; Pankratz, Nathan N; Amatruda, James F JF; Frazier, A Lindsay AL; Krailo, Mark M; Davies, Stella S; Starr, Jacqueline R JR; Lau, Ching C CC; Roesler, Michelle M; Langer, Erica E; Hallstrom, Caroline C; Hooten, Anthony J AJ; Poynter, Jenny N JN
Publication Date: 2017-07

Variant appearance in text: rs2839186
PubMed Link: 28295819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic changes associated with testicular cancer susceptibility.

Seminars In Oncology
Pyle, Louise C LC; Nathanson, Katherine L KL
Publication Date: 2016-10

Variant appearance in text: rs2839186
PubMed Link: 27899190
Variant Present in the following documents:
  • Main text
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A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders.

Cell Reports
Wang, Xuting X; Campbell, Michelle R MR; Lacher, Sarah E SE; Cho, Hye-Youn HY; Wan, Ma M; Crowl, Christopher L CL; Chorley, Brian N BN; Bond, Gareth L GL; Kleeberger, Steven R SR; Slattery, Matthew M; Bell, Douglas A DA
Publication Date: 2016-04-26

Variant appearance in text: rs2839186
PubMed Link: 27149848
Variant Present in the following documents:
  • Main text
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The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.

Molecular Oncology
Quigley, David A DA; Fiorito, Elisa E; Nord, Silje S; Van Loo, Peter P; Alnæs, Grethe Grenaker GG; Fleischer, Thomas T; Tost, Jorg J; Moen Vollan, Hans Kristian HK; Tramm, Trine T; Overgaard, Jens J; Bukholm, Ida R IR; Hurtado, Antoni A; Balmain, Allan A; Børresen-Dale, Anne-Lise AL; Kristensen, Vessela V
Publication Date: 2014-03

Variant appearance in text: rs2839186
PubMed Link: 24388359
Variant Present in the following documents:
  • Main text
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Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

Nature Genetics
Ruark, Elise E; Seal, Sheila S; McDonald, Heather H; Zhang, Feng F; Elliot, Anna A; Lau, Kingwai K; Perdeaux, Elizabeth E; Rapley, Elizabeth E; Eeles, Rosalind R; Peto, Julian J; Kote-Jarai, Zsofia Z; Muir, Kenneth K; Nsengimana, Jeremie J; Shipley, Janet J; , ; Bishop, D Timothy DT; Stratton, Michael R MR; Easton, Douglas F DF; Huddart, Robert A RA; Rahman, Nazneen N; Turnbull, Clare C
Publication Date: 2013-06

Variant appearance in text: rs2839186
PubMed Link: 23666240
Variant Present in the following documents:
  • Main text
  • emss-53129.pdf
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