PC c.160_162delinsTGT ;(p.R54C)

Variant ID: 11-66639317-CCG-ACA

NM_001040716.1(PC):c.160_162delinsTGT;(p.R54C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The pore conformation of lymphocyte perforin.

Science Advances
Ivanova, Marina E ME; Lukoyanova, Natalya N; Malhotra, Sony S; Topf, Maya M; Trapani, Joseph A JA; Voskoboinik, Ilia I; Saibil, Helen R HR
Publication Date: 2022-02-11

Variant appearance in text: PC: R54C
PubMed Link: 35148176
Variant Present in the following documents:
  • Main text
  • sciadv.abk3147.pdf
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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: R54C
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
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Comparison of effect of gamma ray irradiation on wild-type and N-terminal mutants of αA-crystallin.

Molecular Vision
Ramkumar, Srinivasagan S; Fujii, Noriko N; Fujii, Norihiko N; Thankappan, Bency B; Sakaue, Hiroaki H; Ingu, Kim K; Natarajaseenivasan, Kalimuthusamy K; Anbarasu, Kumarasamy K
Publication Date: 2014

Variant appearance in text: PC: R54C
PubMed Link: 25018622
Variant Present in the following documents:
  • mv-v20-1002.pdf
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The mutational landscape of lethal castration-resistant prostate cancer.

Nature
Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA
Publication Date: 2012-07-12

Variant appearance in text: PC: R54C
PubMed Link: 22722839
Variant Present in the following documents:
  • NIHMS368879-supplement-2.xlsx, sheet 4
View BVdb publication page



Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.

Molecular And Cellular Biochemistry
Kore, Rajshekhar R; Hedges, Rebecca A RA; Oonthonpan, Lalita L; Santhoshkumar, Puttur P; Sharma, Krishna K KK; Abraham, Edathara C EC
Publication Date: 2012-03

Variant appearance in text: PC: R54C
PubMed Link: 22045060
Variant Present in the following documents:
  • Main text
View BVdb publication page