APOB c.382_383delinsGC ;(p.R128A)

Variant ID: 2-21263810-CT-GC

NM_000384.2(APOB):c.382_383delinsGC;(p.R128A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Functions and consequences of AID/APOBEC-mediated DNA and RNA deamination.

Nature Reviews. Genetics
Pecori, Riccardo R; Di Giorgio, Salvatore S; Paulo Lorenzo, J J; Nina Papavasiliou, F F
Publication Date: 2022-08

Variant appearance in text: APOB: R128A
PubMed Link: 35256818
Variant Present in the following documents:
  • 41576_2022_Article_459.pdf
View BVdb publication page