APC c.1885_1886del ;(p.L629Sfs*4)

Variant ID: 5-112170787-CTT-C

NM_000038.5(APC):c.1885_1886del;(p.L629Sfs*4)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: APC: L629Sfs*4
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Jnci Cancer Spectrum
Toh, Ming Ren MR; Chiang, Jian Bang JB; Chong, Siao Ting ST; Chan, Sock Hoai SH; Ishak, Nur Diana Binte NDB; Courtney, Eliza E; Lee, Wei Hao WH; Syed Abdillah Al, Syed Muhammad Fahmy Bin SMFB; Carson Allen, John J; Lim, Kiat Hon KH; Davila, Sonia S; Tan, Patrick P; Lim, Weng Khong WK; Tan, Iain Bee Huat IBH; Ngeow, Joanne J
Publication Date: 2018-10

Variant appearance in text: APC: 1884_1885delTT
PubMed Link: 31360874
Variant Present in the following documents:
  • Main text
  • pky054.pdf
View BVdb publication page