TTN c.13141G>A ;(p.E4381K)

Variant ID: 2-179604819-C-T

NM_001267550.1(TTN):c.13141G>A;(p.E4381K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: TTN: 13141G>A; E4381K
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: TTN: E4381K
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: TTN: E4381K
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: TTN: E4381K
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: TTN: E4381K
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_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: TTN: 13141G>A; E4381K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TTN: E4381K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page