GC c.313del ;(p.H105Tfs*22)

Variant ID: 4-72631309-TG-T

NM_000583.3(GC):c.313del;(p.H105Tfs*22)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation
Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2023-03-16

Variant appearance in text: GC: 313del
PubMed Link: 36928090
Variant Present in the following documents:
  • jci-133-164413-s193.xlsx, sheet 1
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 313delC; His105fs
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Elife
Simkin, Dina D; Marshall, Kelly A KA; Vanoye, Carlos G CG; Desai, Reshma R RR; Bustos, Bernabe I BI; Piyevsky, Brandon N BN; Ortega, Juan A JA; Forrest, Marc M; Robertson, Gabriella L GL; Penzes, Peter P; Laux, Linda C LC; Lubbe, Steven J SJ; Millichap, John J JJ; George, Alfred L AL; Kiskinis, Evangelos E
Publication Date: 2021-02-05

Variant appearance in text: GC: 313delC
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page



Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Elife
Simkin, Dina D; Marshall, Kelly A KA; Vanoye, Carlos G CG; Desai, Reshma R RR; Bustos, Bernabe I BI; Piyevsky, Brandon N BN; Ortega, Juan A JA; Forrest, Marc M; Robertson, Gabriella L GL; Penzes, Peter P; Laux, Linda C LC; Lubbe, Steven J SJ; Millichap, John J JJ; George, Alfred L AL; Kiskinis, Evangelos E
Publication Date: 2021-02-05

Variant appearance in text: GC: 313delC
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page



Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03

Variant appearance in text: GC: 313delC
PubMed Link: 30737087
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
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: GC: 313delC
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page