CACNA1D c.*1975A>T

Variant ID: 3-53847408-A-T

NM_001128840.2(CACNA1D):c.*1975A>T

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: rs14165
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs14165
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.

Investigative Ophthalmology & Visual Science
Flitcroft, D Ian DI; Loughman, James J; Wildsoet, Christine F CF; Williams, Cathy C; Guggenheim, Jeremy A JA; ,
Publication Date: 2018-01-01

Variant appearance in text: rs14165
PubMed Link: 29346494
Variant Present in the following documents:
  • i1552-5783-59-1-338.pdf
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INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

Retina (Philadelphia, Pa.)
Wojciechowski, Robert R; Cheng, Ching-Yu CY
Publication Date: 2018-01

Variant appearance in text: rs14165
PubMed Link: 28406858
Variant Present in the following documents:
  • Main text
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Exome Sequence Analysis of 14 Families With High Myopia.

Investigative Ophthalmology & Visual Science
Kloss, Bethany A BA; Tompson, Stuart W SW; Whisenhunt, Kristina N KN; Quow, Krystina L KL; Huang, Samuel J SJ; Pavelec, Derek M DM; Rosenberg, Thomas T; Young, Terri L TL
Publication Date: 2017-04-01

Variant appearance in text: rs14165
PubMed Link: 28384719
Variant Present in the following documents:
  • iovs-58-03-58_s01.pdf
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Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.

Scientific Reports
Fan, Qiao Q; Guo, Xiaobo X; Tideman, J Willem L JW; Williams, Katie M KM; Yazar, Seyhan S; Hosseini, S Mohsen SM; Howe, Laura D LD; Pourcain, Beaté St BS; Evans, David M DM; Timpson, Nicholas J NJ; McMahon, George G; Hysi, Pirro G PG; Krapohl, Eva E; Wang, Ya Xing YX; Jonas, Jost B JB; Baird, Paul Nigel PN; Wang, Jie Jin JJ; Cheng, Ching-Yu CY; Teo, Yik-Ying YY; Wong, Tien-Yin TY; Ding, Xiaohu X; Wojciechowski, Robert R; Young, Terri L TL; Pärssinen, Olavi O; Oexle, Konrad K; Pfeiffer, Norbert N; Bailey-Wilson, Joan E JE; Paterson, Andrew D AD; Klaver, Caroline C W CC; Plomin, Robert R; Hammond, Christopher J CJ; Mackey, David A DA; He, Mingguang M; Saw, Seang-Mei SM; Williams, Cathy C; Guggenheim, Jeremy A JA; ,
Publication Date: 2016-05-13

Variant appearance in text: rs14165
PubMed Link: 27174397
Variant Present in the following documents:
  • Main text
  • srep25853.pdf
  • srep25853-s1.pdf
View BVdb publication page



Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Nature Communications
Fan, Qiao Q; Verhoeven, Virginie J M VJ; Wojciechowski, Robert R; Barathi, Veluchamy A VA; Hysi, Pirro G PG; Guggenheim, Jeremy A JA; Höhn, René R; Vitart, Veronique V; Khawaja, Anthony P AP; Yamashiro, Kenji K; Hosseini, S Mohsen SM; Lehtimäki, Terho T; Lu, Yi Y; Haller, Toomas T; Xie, Jing J; Delcourt, Cécile C; Pirastu, Mario M; Wedenoja, Juho J; Gharahkhani, Puya P; Venturini, Cristina C; Miyake, Masahiro M; Hewitt, Alex W AW; Guo, Xiaobo X; Mazur, Johanna J; Huffman, Jenifer E JE; Williams, Katie M KM; Polasek, Ozren O; Campbell, Harry H; Rudan, Igor I; Vatavuk, Zoran Z; Wilson, James F JF; Joshi, Peter K PK; McMahon, George G; St Pourcain, Beate B; Evans, David M DM; Simpson, Claire L CL; Schwantes-An, Tae-Hwi TH; Igo, Robert P RP; Mirshahi, Alireza A; Cougnard-Gregoire, Audrey A; Bellenguez, Céline C; Blettner, Maria M; Raitakari, Olli O; Kähönen, Mika M; Seppala, Ilkka I; Zeller, Tanja T; Meitinger, Thomas T; , ; Ried, Janina S JS; Gieger, Christian C; Portas, Laura L; van Leeuwen, Elisabeth M EM; Amin, Najaf N; Uitterlinden, André G AG; Rivadeneira, Fernando F; Hofman, Albert A; Vingerling, Johannes R JR; Wang, Ya Xing YX; Wang, Xu X; Tai-Hui Boh, Eileen E; Ikram, M Kamran MK; Sabanayagam, Charumathi C; Gupta, Preeti P; Tan, Vincent V; Zhou, Lei L; Ho, Candice E H CE; Lim, Wan'e W; Beuerman, Roger W RW; Siantar, Rosalynn R; Tai, E-Shyong ES; Vithana, Eranga E; Mihailov, Evelin E; Khor, Chiea-Chuen CC; Hayward, Caroline C; Luben, Robert N RN; Foster, Paul J PJ; Klein, Barbara E K BE; Klein, Ronald R; Wong, Hoi-Suen HS; Mitchell, Paul P; Metspalu, Andres A; Aung, Tin T; Young, Terri L TL; He, Mingguang M; Pärssinen, Olavi O; van Duijn, Cornelia M CM; Jin Wang, Jie J; Williams, Cathy C; Jonas, Jost B JB; Teo, Yik-Ying YY; Mackey, David A DA; Oexle, Konrad K; Yoshimura, Nagahisa N; Paterson, Andrew D AD; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Baird, Paul N PN; Stambolian, Dwight D; Wilson, Joan E Bailey JE; Cheng, Ching-Yu CY; Hammond, Christopher J CJ; Klaver, Caroline C W CC; Saw, Seang-Mei SM; Rahi, Jugnoo S JS; Korobelnik, Jean-François JF; Kemp, John P JP; Timpson, Nicholas J NJ; Smith, George Davey GD; Craig, Jamie E JE; Burdon, Kathryn P KP; Fogarty, Rhys D RD; Iyengar, Sudha K SK; Chew, Emily E; Janmahasatian, Sarayut S; Martin, Nicholas G NG; MacGregor, Stuart S; Xu, Liang L; Schache, Maria M; Nangia, Vinay V; Panda-Jonas, Songhomitra S; Wright, Alan F AF; Fondran, Jeremy R JR; Lass, Jonathan H JH; Feng, Sheng S; Zhao, Jing Hua JH; Khaw, Kay-Tee KT; Wareham, Nick J NJ; Rantanen, Taina T; Kaprio, Jaakko J; Pang, Chi Pui CP; Chen, Li Jia LJ; Tam, Pancy O PO; Jhanji, Vishal V; Young, Alvin L AL; Döring, Angela A; Raffel, Leslie J LJ; Cotch, Mary-Frances MF; Li, Xiaohui X; Yip, Shea Ping SP; Yap, Maurice K H MK; Biino, Ginevra G; Vaccargiu, Simona S; Fossarello, Maurizio M; Fleck, Brian B; Yazar, Seyhan S; Tideman, Jan Willem L JW; Tedja, Milly M; Deangelis, Margaret M MM; Morrison, Margaux M; Farrer, Lindsay L; Zhou, Xiangtian X; Chen, Wei W; Mizuki, Nobuhisa N; Meguro, Akira A; Mäkelä, Kari Matti KM
Publication Date: 2016-03-29

Variant appearance in text: rs14165
PubMed Link: 27020472
Variant Present in the following documents:
  • ncomms11008-s1.pdf
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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs14165
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Nature Genetics
Verhoeven, Virginie J M VJ; Hysi, Pirro G PG; Wojciechowski, Robert R; Fan, Qiao Q; Guggenheim, Jeremy A JA; Höhn, René R; MacGregor, Stuart S; Hewitt, Alex W AW; Nag, Abhishek A; Cheng, Ching-Yu CY; Yonova-Doing, Ekaterina E; Zhou, Xin X; Ikram, M Kamran MK; Buitendijk, Gabriëlle H S GH; McMahon, George G; Kemp, John P JP; Pourcain, Beate St BS; Simpson, Claire L CL; Mäkelä, Kari-Matti KM; Lehtimäki, Terho T; Kähönen, Mika M; Paterson, Andrew D AD; Hosseini, S Mohsen SM; Wong, Hoi Suen HS; Xu, Liang L; Jonas, Jost B JB; Pärssinen, Olavi O; Wedenoja, Juho J; Yip, Shea Ping SP; Ho, Daniel W H DW; Pang, Chi Pui CP; Chen, Li Jia LJ; Burdon, Kathryn P KP; Craig, Jamie E JE; Klein, Barbara E K BE; Klein, Ronald R; Haller, Toomas T; Metspalu, Andres A; Khor, Chiea-Chuen CC; Tai, E-Shyong ES; Aung, Tin T; Vithana, Eranga E; Tay, Wan-Ting WT; Barathi, Veluchamy A VA; , ; Chen, Peng P; Li, Ruoying R; Liao, Jiemin J; Zheng, Yingfeng Y; Ong, Rick T RT; Döring, Angela A; , ; Evans, David M DM; Timpson, Nicholas J NJ; Verkerk, Annemieke J M H AJ; Meitinger, Thomas T; Raitakari, Olli O; Hawthorne, Felicia F; Spector, Tim D TD; Karssen, Lennart C LC; Pirastu, Mario M; Murgia, Federico F; Ang, Wei W; , ; Mishra, Aniket A; Montgomery, Grant W GW; Pennell, Craig E CE; Cumberland, Phillippa M PM; Cotlarciuc, Ioana I; Mitchell, Paul P; Wang, Jie Jin JJ; Schache, Maria M; Janmahasatian, Sarayut S; Janmahasathian, Sarayut S; Igo, Robert P RP; Lass, Jonathan H JH; Chew, Emily E; Iyengar, Sudha K SK; , ; Gorgels, Theo G M F TG; Rudan, Igor I; Hayward, Caroline C; Wright, Alan F AF; Polasek, Ozren O; Vatavuk, Zoran Z; Wilson, James F JF; Fleck, Brian B; Zeller, Tanja T; Mirshahi, Alireza A; Müller, Christian C; Uitterlinden, André G AG; Rivadeneira, Fernando F; Vingerling, Johannes R JR; Hofman, Albert A; Oostra, Ben A BA; Amin, Najaf N; Bergen, Arthur A B AA; Teo, Yik-Ying YY; Rahi, Jugnoo S JS; Vitart, Veronique V; Williams, Cathy C; Baird, Paul N PN; Wong, Tien-Yin TY; Oexle, Konrad K; Pfeiffer, Norbert N; Mackey, David A DA; Young, Terri L TL; van Duijn, Cornelia M CM; Saw, Seang-Mei SM; Bailey-Wilson, Joan E JE; Stambolian, Dwight D; Klaver, Caroline C CC; Hammond, Christopher J CJ
Publication Date: 2013-03

Variant appearance in text: rs14165
PubMed Link: 23396134
Variant Present in the following documents:
  • Main text
View BVdb publication page