APOB c.13387A>G ;(p.K4463E)

Variant ID: 2-21224907-T-C

NM_000384.2(APOB):c.13387A>G;(p.K4463E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: APOB: K4463E; rs1262909552
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Plos One
Khlebus, Eleonora E; Kutsenko, Vladimir V; Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Shevtsov, Anton A; Shcherbakova, Natalia N; Zharikova, Anastasiia A; Lankin, Vadim V; Tikhaze, Alla A; Chazova, Irina I; Yarovaya, Elena E; Drapkina, Oksana O; Boytsov, Sergey S
Publication Date: 2019

Variant appearance in text: APOB: Lys4463Glu
PubMed Link: 31150472
Variant Present in the following documents:
  • Main text
  • pone.0217620.pdf
View BVdb publication page