APAF1 c.515C>T ;(p.S172F)

Variant ID: 12-99043451-C-T

NM_181861.1(APAF1):c.515C>T;(p.S172F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: APAF1: 515C>T; Ser172Phe; rs147932236
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



In silico approach to the analysis of SNPs in the human APAF1 gene.

Turkish Journal Of Biology = Turk Biyoloji Dergisi
Kaman, Tuğba T; Karasakal, Ömer Faruk ÖF; Özkan Oktay, Ebru E; Ulucan, Korkut K; Konuk, Muhsin M
Publication Date: 2019

Variant appearance in text: rs147932236
PubMed Link: 31892812
Variant Present in the following documents:
  • Main text
  • turkjbio-43-371.pdf
View BVdb publication page



Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications
Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G
Publication Date: 2017-11-23

Variant appearance in text: APAF1: 515C>T; S172F
PubMed Link: 29170503
Variant Present in the following documents:
  • 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs147932236
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 11
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 6
View BVdb publication page