PC c.145G>A ;(p.A49T)

Variant ID: 11-66639334-C-T

NM_001040716.1(PC):c.145G>A;(p.A49T)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: PC: 145G>A
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: PC: A49T
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 20
View BVdb publication page



Distinct molecular profile of diffuse cerebellar gliomas.

Acta Neuropathologica
Nomura, Masashi M; Mukasa, Akitake A; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Suzuki, Tomonari T; Otani, Ryohei R; Kobayashi, Keiichi K; Maruyama, Takashi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Nejo, Takahide T; Takahashi, Satoshi S; Ichimura, Koichi K; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Ueki, Keisuke K; Nishikawa, Ryo R; Shibahara, Junji J; Aburatani, Hiroyuki H; Saito, Nobuhito N
Publication Date: 2017-12

Variant appearance in text: PC: A49T
PubMed Link: 28852847
Variant Present in the following documents:
  • 401_2017_1771_MOESM2_ESM.xlsx, sheet 7
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: A49T
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



A distinct holoenzyme organization for two-subunit pyruvate carboxylase.

Nature Communications
Choi, Philip H PH; Jo, Jeanyoung J; Lin, Yu-Cheng YC; Lin, Min-Han MH; Chou, Chi-Yuan CY; Dietrich, Lars E P LEP; Tong, Liang L
Publication Date: 2016-10-06

Variant appearance in text: PC: A49T
PubMed Link: 27708276
Variant Present in the following documents:
  • Main text
  • ncomms12713.pdf
View BVdb publication page



Genetic variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men.

Plos One
De Naeyer, Hélène H; Bogaert, Veerle V; De Spaey, Annelies A; Roef, Greet G; Vandewalle, Sara S; Derave, Wim W; Taes, Youri Y; Kaufman, Jean-Marc JM
Publication Date: 2014

Variant appearance in text: PC: A49T
PubMed Link: 24465978
Variant Present in the following documents:
  • pone.0086235.pdf
View BVdb publication page



A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland.

British Journal Of Cancer
Mononen, N N; Ikonen, T T; Syrjäkoski, K K; Matikainen, M M; Schleutker, J J; Tammela, T L TL; Koivisto, P A PA; Kallioniemi, O P OP
Publication Date: 2001-05-18

Variant appearance in text: PC: A49T
PubMed Link: 11355945
Variant Present in the following documents:
  • Main text
View BVdb publication page