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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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