ADAM15 c.881C>T ;(p.P294L)

Variant ID: 1-155028692-C-T

NM_207197.2(ADAM15):c.881C>T;(p.P294L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Discovery of common and rare genetic risk variants for colorectal cancer.

Nature Genetics
Huyghe, Jeroen R JR; Bien, Stephanie A SA; Harrison, Tabitha A TA; Kang, Hyun Min HM; Chen, Sai S; Schmit, Stephanie L SL; Conti, David V DV; Qu, Conghui C; Jeon, Jihyoun J; Edlund, Christopher K CK; Greenside, Peyton P; Wainberg, Michael M; Schumacher, Fredrick R FR; Smith, Joshua D JD; Levine, David M DM; Nelson, Sarah C SC; Sinnott-Armstrong, Nasa A NA; Albanes, Demetrius D; Alonso, M Henar MH; Anderson, Kristin K; Arnau-Collell, Coral C; Arndt, Volker V; Bamia, Christina C; Banbury, Barbara L BL; Baron, John A JA; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Boehm, Juergen J; Boeing, Heiner H; Brenner, Hermann H; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Burnett-Hartman, Andrea A; Butterbach, Katja K; Caan, Bette J BJ; Campbell, Peter T PT; Carlson, Christopher S CS; Castellví-Bel, Sergi S; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chirlaque, Maria-Dolores MD; Cho, Sang Hee SH; Connolly, Charles M CM; Cross, Amanda J AJ; Cuk, Katarina K; Curtis, Keith R KR; de la Chapelle, Albert A; Doheny, Kimberly F KF; Duggan, David D; Easton, Douglas F DF; Elias, Sjoerd G SG; Elliott, Faye F; English, Dallas R DR; Feskens, Edith J M EJM; Figueiredo, Jane C JC; Fischer, Rocky R; FitzGerald, Liesel M LM; Forman, David D; Gala, Manish M; Gallinger, Steven S; Gauderman, W James WJ; Giles, Graham G GG; Gillanders, Elizabeth E; Gong, Jian J; Goodman, Phyllis J PJ; Grady, William M WM; Grove, John S JS; Gsur, Andrea A; Gunter, Marc J MJ; Haile, Robert W RW; Hampe, Jochen J; Hampel, Heather H; Harlid, Sophia S; Hayes, Richard B RB; Hofer, Philipp P; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Wan-Ling WL; Huang, Wen-Yi WY; Hudson, Thomas J TJ; Hunter, David J DJ; Ibañez-Sanz, Gemma G; Idos, Gregory E GE; Ingersoll, Roxann R; Jackson, Rebecca D RD; Jacobs, Eric J EJ; Jenkins, Mark A MA; Joshi, Amit D AD; Joshu, Corinne E CE; Keku, Temitope O TO; Key, Timothy J TJ; Kim, Hyeong Rok HR; Kobayashi, Emiko E; Kolonel, Laurence N LN; Kooperberg, Charles C; Kühn, Tilman T; Küry, Sébastien S; Kweon, Sun-Seog SS; Larsson, Susanna C SC; Laurie, Cecelia A CA; Le Marchand, Loic L; Leal, Suzanne M SM; Lee, Soo Chin SC; Lejbkowicz, Flavio F; Lemire, Mathieu M; Li, Christopher I CI; Li, Li L; Lieb, Wolfgang W; Lin, Yi Y; Lindblom, Annika A; Lindor, Noralane M NM; Ling, Hua H; Louie, Tin L TL; Männistö, Satu S; Markowitz, Sanford D SD; Martín, Vicente V; Masala, Giovanna G; McNeil, Caroline E CE; Melas, Marilena M; Milne, Roger L RL; Moreno, Lorena L; Murphy, Neil N; Myte, Robin R; Naccarati, Alessio A; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Onland-Moret, N Charlotte NC; Pardini, Barbara B; Parfrey, Patrick S PS; Pearlman, Rachel R; Perduca, Vittorio V; Pharoah, Paul D P PDP; Pinchev, Mila M; Platz, Elizabeth A EA; Prentice, Ross L RL; Pugh, Elizabeth E; Raskin, Leon L; Rennert, Gad G; Rennert, Hedy S HS; Riboli, Elio E; Rodríguez-Barranco, Miguel M; Romm, Jane J; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Seminara, Daniela D; Shah, Mitul M; Shelford, Tameka T; Shin, Min-Ho MH; Shulman, Katerina K; Sieri, Sabina S; Slattery, Martha L ML; Southey, Melissa C MC; Stadler, Zsofia K ZK; Stegmaier, Christa C; Su, Yu-Ru YR; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Thomas, Duncan C DC; Thomas, Sushma S SS; Toland, Amanda E AE; Trichopoulou, Antonia A; Ulrich, Cornelia M CM; Van Den Berg, David J DJ; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; van Kranen, Henk H; Vijai, Joseph J; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Win, Aung Ko AK; Wolf, C Roland CR; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zaidi, Syed H SH; Zanke, Brent W BW; Zhang, Qing Q; Zheng, Wei W; Scacheri, Peter C PC; Potter, John D JD; Bassik, Michael C MC; Kundaje, Anshul A; Casey, Graham G; Moreno, Victor V; Abecasis, Goncalo R GR; Nickerson, Deborah A DA; Gruber, Stephen B SB; Hsu, Li L; Peters, Ulrike U
Publication Date: 2019-01

Variant appearance in text: rs2306122
PubMed Link: 30510241
Variant Present in the following documents:
  • NIHMS1510322-supplement-1.pdf
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: ADAM15: 881C>T; P294L
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: ADAM15: 881C>T; Pro294Leu
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2306122
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: ADAM15: P294L
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: ADAM15: P294L; rs2306122
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page