APC c.7387G>A ;(p.E2463K)

Variant ID: 5-112178678-G-A

NM_000038.5(APC):c.7387G>A;(p.E2463K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.

European Journal Of Human Genetics : Ejhg
von Holst, Susanna S; Jiao, Xiang X; Liu, Wen W; Kontham, Vinaykumar V; Thutkawkorapin, Jessada J; Ringdahl, Jenny J; Bryant, Patrick P; Lindblom, Annika A
Publication Date: 2019-08

Variant appearance in text: APC: 7387G>A
PubMed Link: 30952955
Variant Present in the following documents:
  • Main text
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: E2463K
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page