APC c.232G>A ;(p.D78N)

Variant ID: 5-112102897-G-A

NM_000038.5(APC):c.232G>A;(p.D78N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Nature Communications
Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M
Publication Date: 2021-03-04

Variant appearance in text: APC: Asp78Asn
PubMed Link: 33664264
Variant Present in the following documents:
  • 41467_2021_21576_MOESM1_ESM.pdf
View BVdb publication page



Activated protein C cofactor function of protein S: a critical role for Asp95 in the EGF1-like domain.

Blood
Andersson, Helena M HM; Arantes, Márcia J MJ; Crawley, James T B JT; Luken, Brenda M BM; Tran, Sinh S; Dahlbäck, Björn B; Lane, David A DA; Rezende, Suely M SM
Publication Date: 2010-06-10

Variant appearance in text: APC: D78N
PubMed Link: 20308596
Variant Present in the following documents:
  • Main text
View BVdb publication page