SLC25A44 c.*1548A>G

Variant ID: 1-156181770-A-G

NM_014655.2(SLC25A44):c.*1548A>G

This variant was identified in 4 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: rs2853641
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs2853641
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs2853641
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.

American Journal Of Human Genetics
Woo, Daniel D; Falcone, Guido J GJ; Devan, William J WJ; Brown, W Mark WM; Biffi, Alessandro A; Howard, Timothy D TD; Anderson, Christopher D CD; Brouwers, H Bart HB; Valant, Valerie V; Battey, Thomas W K TW; Radmanesh, Farid F; Raffeld, Miriam R MR; Baedorf-Kassis, Sylvia S; Deka, Ranjan R; Woo, Jessica G JG; Martin, Lisa J LJ; Haverbusch, Mary M; Moomaw, Charles J CJ; Sun, Guangyun G; Broderick, Joseph P JP; Flaherty, Matthew L ML; Martini, Sharyl R SR; Kleindorfer, Dawn O DO; Kissela, Brett B; Comeau, Mary E ME; Jagiella, Jeremiasz M JM; Schmidt, Helena H; Freudenberger, Paul P; Pichler, Alexander A; Enzinger, Christian C; Hansen, Björn M BM; Norrving, Bo B; Jimenez-Conde, Jordi J; Giralt-Steinhauer, Eva E; Elosua, Roberto R; Cuadrado-Godia, Elisa E; Soriano, Carolina C; Roquer, Jaume J; Kraft, Peter P; Ayres, Alison M AM; Schwab, Kristin K; McCauley, Jacob L JL; Pera, Joanna J; Urbanik, Andrzej A; Rost, Natalia S NS; Goldstein, Joshua N JN; Viswanathan, Anand A; Stögerer, Eva-Maria EM; Tirschwell, David L DL; Selim, Magdy M; Brown, Devin L DL; Silliman, Scott L SL; Worrall, Bradford B BB; Meschia, James F JF; Kidwell, Chelsea S CS; Montaner, Joan J; Fernandez-Cadenas, Israel I; Delgado, Pilar P; Malik, Rainer R; Dichgans, Martin M; Greenberg, Steven M SM; Rothwell, Peter M PM; Lindgren, Arne A; Slowik, Agnieszka A; Schmidt, Reinhold R; Langefeld, Carl D CD; Rosand, Jonathan J; ,
Publication Date: 2014-04-03

Variant appearance in text: rs2853641
PubMed Link: 24656865
Variant Present in the following documents:
  • Main text
View BVdb publication page