PC c.754G>A ;(p.D252N)

Variant ID: 11-66637922-C-T

NM_001040716.1(PC):c.754G>A;(p.D252N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Energetics of lipid transport by the ABC transporter MsbA is lipid dependent.

Communications Biology
Guo, Dawei D; Singh, Himansha H; Shimoyama, Atsushi A; Guffick, Charlotte C; Tang, Yakun Y; Rowe, Sam M SM; Noel, Timothy T; Spring, David R DR; Fukase, Koichi K; van Veen, Hendrik W HW
Publication Date: 2021-12-09

Variant appearance in text: PC: D252N
PubMed Link: 34887543
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2902.pdf
View BVdb publication page



Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis.

Journal Of The Endocrine Society
Melo, Maria Clara C MCC; de Souza, Janaína S JS; Kizys, Marina M L MML; Vidi, Angela C AC; Dorta, Haron S HS; Kunii, Ilda S IS; Giannocco, Gisele G; Carvalheira, Gianna G; Dias-da-Silva, Magnus R MR
Publication Date: 2017-07-01

Variant appearance in text: PC: D252N
PubMed Link: 29264532
Variant Present in the following documents:
  • js-01-809.pdf
View BVdb publication page



Mitochondrial genome variation and prostate cancer: a review of the mutational landscape and application to clinical management.

Oncotarget
Kalsbeek, Anton M F AMF; Chan, Eva K F EKF; Corcoran, Niall M NM; Hovens, Christopher M CM; Hayes, Vanessa M VM
Publication Date: 2017-09-19

Variant appearance in text: PC: D252N
PubMed Link: 29050365
Variant Present in the following documents:
  • oncotarget-08-71342.pdf
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: PC: 754G>A; Asp252Asn
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: PC: D252N
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation
Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL
Publication Date: 2016

Variant appearance in text: PC: 754G>A
PubMed Link: 27408750
Variant Present in the following documents:
View BVdb publication page