ACTN2 c.1235C>T ;(p.T412M)

Variant ID: 1-236906323-C-T

NM_001103.3(ACTN2):c.1235C>T;(p.T412M)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Mutation update for the ACTN2 gene.

Human Mutation
Ranta-Aho, Johanna J; Olive, Montse M; Vandroux, Marie M; Roticiani, Giorgia G; Dominguez, Cristina C; Johari, Mridul M; Torella, Annalaura A; Böhm, Johann J; Turon, Janina J; Nigro, Vincenzo V; Hackman, Peter P; Laporte, Jocelyn J; Udd, Bjarne B; Savarese, Marco M
Publication Date: 2022-09-18

Variant appearance in text: ACTN2: Thr412Met
PubMed Link: 36116040
Variant Present in the following documents:
  • Main text
  • HUMU-43-1745.pdf
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: ACTN2: T412M
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The utility of exome sequencing for fetal pleural effusions.

Prenatal Diagnosis
Jelin, Angie C AC; Sobreira, Nara N; Wohler, Elizabeth E; Solomon, Benjamin B; Sparks, Teresa T; Sagaser, Katelynn G KG; Forster, Katherine R KR; Miller, Jena J; Witmer, P Dane PD; Hamosh, Ada A; Valle, David D; Blakemore, Karin K
Publication Date: 2020-04

Variant appearance in text: ACTN2: T412M
PubMed Link: 31994743
Variant Present in the following documents:
  • Main text
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: ACTN2: 1235C>T; Thr412Met
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: ACTN2: 1235C>T; Thr412Met; rs139515659
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ACTN2: 1235C>T; Thr412Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: ACTN2: 1235C>T; T412M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page