NF1 c.3114G>T ;(p.R1038S)

Variant ID: 17-29557860-G-T

NM_001042492.2(NF1):c.3114G>T;(p.R1038S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Molecular Genetics & Genomic Medicine
Trevisson, Eva E; Morbidoni, Valeria V; Forzan, Monica M; Daolio, Cecilia C; Fumini, Valentina V; Parrozzani, Raffaele R; Cassina, Matteo M; Midena, Edoardo E; Salviati, Leonardo L; Clementi, Maurizio M
Publication Date: 2019-05

Variant appearance in text: NF1: 3114G>T; Arg1038Ser
PubMed Link: 30843352
Variant Present in the following documents:
  • Main text
  • MGG3-7-e616.pdf
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: NF1: 3114G>T; Arg1038Ser
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Genes
Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N
Publication Date: 2018-04-17

Variant appearance in text: NF1: 3114G>T; Arg1038Ser
PubMed Link: 29673180
Variant Present in the following documents:
  • Main text
  • genes-09-00216.pdf
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: NF1: R1038S
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page