APC c.1619T>G ;(p.L540*)

Variant ID: 5-112163696-T-G

NM_000038.5(APC):c.1619T>G;(p.L540*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The frequency of promoter DNA hypermethylation is decreased in colorectal neoplasms of familial adenomatous polyposis.

Oncotarget
Takane, Kiyoko K; Fukuyo, Masaki M; Matsusaka, Keisuke K; Ota, Satoshi S; Rahmutulla, Bahityar B; Matsushita, Kazuyuki K; Miyauchi, Hideaki H; Nakatani, Yukio Y; Matsubara, Hisahiro H; Kaneda, Atsushi A
Publication Date: 2018-08-24

Variant appearance in text: APC: L540X
PubMed Link: 30220972
Variant Present in the following documents:
  • oncotarget-09-32653-s001.pdf
View BVdb publication page



Two subtypes of colorectal tumor with distinct molecular features in familial adenomatous polyposis.

Oncotarget
Takane, Kiyoko K; Matsusaka, Keisuke K; Ota, Satoshi S; Fukuyo, Masaki M; Yue, Yao Y; Nishimura, Motoi M; Sakai, Eiji E; Matsushita, Kazuyuki K; Miyauchi, Hideaki H; Aburatani, Hiroyuki H; Nakatani, Yukio Y; Takayama, Tadatoshi T; Matsubara, Hisahiro H; Akagi, Kiwamu K; Kaneda, Atsushi A
Publication Date: 2016-12-20

Variant appearance in text: APC: L540X
PubMed Link: 27563825
Variant Present in the following documents:
  • Main text
  • oncotarget-07-84003.pdf
View BVdb publication page