TNFRSF1A c.287T>C ;(p.L96P)

Variant ID: 12-6442938-A-G

NM_001065.3(TNFRSF1A):c.287T>C;(p.L96P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs104895235
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs104895235
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: TNFRSF1A: 287T>C; rs104895235
PubMed Link: 32082075
Variant Present in the following documents:
  • Main text
  • MI2019-3293145.pdf
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: TNFRSF1A: Leu96Pro
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Annals Of The Rheumatic Diseases
Lachmann, H J HJ; Papa, R R; Gerhold, K K; Obici, L L; Touitou, I I; Cantarini, L L; Frenkel, J J; Anton, J J; Kone-Paut, I I; Cattalini, M M; Bader-Meunier, B B; Insalaco, A A; Hentgen, V V; Merino, R R; Modesto, C C; Toplak, N N; Berendes, R R; Ozen, S S; Cimaz, R R; Jansson, A A; Brogan, P A PA; Hawkins, P N PN; Ruperto, N N; Martini, A A; Woo, P P; Gattorno, M M; ,
Publication Date: 2014-12

Variant appearance in text: TNFRSF1A: Leu96Pro
PubMed Link: 23965844
Variant Present in the following documents:
  • Main text
  • annrheumdis-2013-204184.pdf
View BVdb publication page