APC c.3739G>A ;(p.A1247T)

Variant ID: 5-112175030-G-A

NM_000038.5(APC):c.3739G>A;(p.A1247T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: APC: A1247T
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_1.xlsx, sheet 6
View BVdb publication page



Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget
Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD
Publication Date: 2017-11-07

Variant appearance in text: APC: A1247T; rs148223181
PubMed Link: 29212164
Variant Present in the following documents:
  • oncotarget-08-93450-s002.xlsx, sheet 1
View BVdb publication page



Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer.

Bmc Medical Genetics
Ghatak, Souvik S; Chakraborty, Payel P; Sarkar, Sandeep Roy SR; Chowdhury, Biswajit B; Bhaumik, Arup A; Kumar, Nachimuthu Senthil NS
Publication Date: 2017-06-02

Variant appearance in text: APC: A1247T
PubMed Link: 28576136
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_427.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: APC: 3739G>A; Ala1247Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page