CCNA2 c.1250+78T>C

Variant ID: 4-122739121-A-G

NM_001237.3(CCNA2):c.1250+78T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: rs3217773
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.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: rs3217773
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs3217773
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics
Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J
Publication Date: 2015

Variant appearance in text: rs3217773
PubMed Link: 26110739
Variant Present in the following documents:
  • 1471-2164-16-S8-S4-S1.pdf
View BVdb publication page



A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH
Publication Date: 2015

Variant appearance in text: rs3217773
PubMed Link: 25592580
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.

Carcinogenesis
Hosgood, H Dean HD; Menashe, Idan I; Shen, Min M; Yeager, Meredith M; Yuenger, Jeff J; Rajaraman, Preetha P; He, Xingzhou X; Chatterjee, Nilanjan N; Caporaso, Neil E NE; Zhu, Yong Y; Chanock, Stephen J SJ; Zheng, Tongzhang T; Lan, Qing Q
Publication Date: 2008-10

Variant appearance in text: rs3217773
PubMed Link: 18676680
Variant Present in the following documents:
  • Main text
View BVdb publication page