APC c.586A>G ;(p.I196V)

Variant ID: 5-112116541-A-G

NM_000038.5(APC):c.586A>G;(p.I196V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: APC: Ile196Val
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Protein S K196E mutation reduces its cofactor activity for APC but not for TFPI.

Research And Practice In Thrombosis And Haemostasis
Maruyama, Keiko K; Akiyama, Masashi M; Miyata, Toshiyuki T; Kokame, Koichi K
Publication Date: 2018-10

Variant appearance in text: APC: 586A>G
PubMed Link: 30349894
Variant Present in the following documents:
  • Main text
  • RTH2-2-751.pdf
View BVdb publication page