HERC2 c.10432G>A ;(p.A3478T)

Variant ID: 15-28412955-C-T

NM_004667.5(HERC2):c.10432G>A;(p.A3478T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

Nature Genetics
Mangiante, Lise L; Alcala, Nicolas N; Sexton-Oates, Alexandra A; Di Genova, Alex A; Gonzalez-Perez, Abel A; Khandekar, Azhar A; Bergstrom, Erik N EN; Kim, Jaehee J; Liu, Xiran X; Blazquez-Encinas, Ricardo R; Giacobi, Colin C; Le Stang, Nolwenn N; Boyault, Sandrine S; Cuenin, Cyrille C; Tabone-Eglinger, Severine S; Damiola, Francesca F; Voegele, Catherine C; Ardin, Maude M; Michallet, Marie-Cecile MC; Soudade, Lorraine L; Delhomme, Tiffany M TM; Poret, Arnaud A; Brevet, Marie M; Copin, Marie-Christine MC; Giusiano-Courcambeck, Sophie S; Damotte, Diane D; Girard, Cecile C; Hofman, Veronique V; Hofman, Paul P; Mouroux, Jérôme J; Cohen, Charlotte C; Lacomme, Stephanie S; Mazieres, Julien J; de Montpreville, Vincent Thomas VT; Perrin, Corinne C; Planchard, Gaetane G; Rousseau, Nathalie N; Rouquette, Isabelle I; Sagan, Christine C; Scherpereel, Arnaud A; Thivolet, Francoise F; Vignaud, Jean-Michel JM; Jean, Didier D; Ilg, Anabelle Gilg Soit AGS; Olaso, Robert R; Meyer, Vincent V; Boland-Auge, Anne A; Deleuze, Jean-Francois JF; Altmuller, Janine J; Nuernberg, Peter P; Ibáñez-Costa, Alejandro A; Castaño, Justo P JP; Lantuejoul, Sylvie S; Ghantous, Akram A; Maussion, Charles C; Courtiol, Pierre P; Hernandez-Vargas, Hector H; Caux, Christophe C; Girard, Nicolas N; Lopez-Bigas, Nuria N; Alexandrov, Ludmil B LB; Galateau-Salle, Françoise F; Foll, Matthieu M; Fernandez-Cuesta, Lynnette L
Publication Date: 2023-03-16

Variant appearance in text: HERC2: A3478T
PubMed Link: 36928603
Variant Present in the following documents:
  • 41588_2023_1321_MOESM4_ESM.xlsx, sheet 44
View BVdb publication page



The genomic landscape of pediatric myelodysplastic syndromes.

Nature Communications
Schwartz, Jason R JR; Ma, Jing J; Lamprecht, Tamara T; Walsh, Michael M; Wang, Shuoguo S; Bryant, Victoria V; Song, Guangchun G; Wu, Gang G; Easton, John J; Kesserwan, Chimene C; Nichols, Kim E KE; Mullighan, Charles G CG; Ribeiro, Raul C RC; Klco, Jeffery M JM
Publication Date: 2017-11-16

Variant appearance in text: HERC2: A3478T; rs149437745
PubMed Link: 29146900
Variant Present in the following documents:
  • 41467_2017_1590_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: HERC2: A3478T
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: HERC2: 10432G>A; A3478T; rs149437745
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: HERC2: 10432G>A; A3478T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page