APC c.7402T>C ;(p.S2468P)

Variant ID: 5-112178693-T-C

NM_000038.5(APC):c.7402T>C;(p.S2468P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: APC: 7402T>C; Ser2468Pro
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: S2468P
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
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: 7402T>C; Ser2468Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12

Variant appearance in text: APC: 7402T>C; S2468P
PubMed Link: 27997549
Variant Present in the following documents:
  • pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page



Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Familial Cancer
Rohlin, Anna A; Rambech, Eva E; Kvist, Anders A; Törngren, Therese T; Eiengård, Frida F; Lundstam, Ulf U; Zagoras, Theofanis T; Gebre-Medhin, Samuel S; Borg, Åke Å; Björk, Jan J; Nilbert, Mef M; Nordling, Margareta M
Publication Date: 2017-04

Variant appearance in text: APC: Ser2468Pro
PubMed Link: 27696107
Variant Present in the following documents:
  • Main text
  • 10689_2016_Article_9934.pdf
View BVdb publication page