NF1 c.311T>G ;(p.L104*)

Variant ID: 17-29490226-T-G

NM_001042492.2(NF1):c.311T>G;(p.L104*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NF1: L104*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: NF1: 311T>G
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 9
View BVdb publication page



Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Balkan Journal Of Medical Genetics : Bjmg
Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I
Publication Date: 2017-06-30

Variant appearance in text: NF1: 311T>G; Leu104Ter
PubMed Link: 28924536
Variant Present in the following documents:
  • Main text
  • bjmg-20-013.pdf
View BVdb publication page



Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Genes, Chromosomes & Cancer
Stewart, Douglas R DR; Pemov, Alexander A; Van Loo, Peter P; Beert, Eline E; Brems, Hilde H; Sciot, Raf R; Claes, Kathleen K; Pak, Evgenia E; Dutra, Amalia A; Lee, Chyi-Chia Richard CC; Legius, Eric E
Publication Date: 2012-05

Variant appearance in text: NF1: 311T>G
PubMed Link: 22250039
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: Leu104X
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page



Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Cancer Research
Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR
Publication Date: 2009-09-15

Variant appearance in text: NF1: 311T>G
PubMed Link: 19738042
Variant Present in the following documents:
  • Main text
View BVdb publication page